5800 Results for: "4-Bromo-5-methoxy-1H-indole&pageNo=51"

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Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterised by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. BBS genes map to multiple loci and encode fourteen proteins, BBS1-BBS14. Many BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS10 (Bardet-Biedl syndrome 10), also known as chromosome 12 open reading fame 58, C12orf58 or FLJ23560, is a novel 723 amino acid protein belonging to the TCP-1 chaperonin family. BBS10 localizes to the basal body of primary cilium and assists in protein folding upon ATP hydrolysis. Inhibition of BBS10 has been found to impair ciliogenesis, activate the glycogen synthase kinase 3 pathway and cause peroxisome proliferator-activated receptor nuclear accumulation. The gene encoding BBS10 contains two exons and maps to human chromosome 12q21.2.

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Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf21 gene product has been provisionally designated C1orf21 pending further characterization.

Supplier: Bioss

The cystatin superfamily is a well-established family of cysteine protease inhibitors. Cystatins A and B (type 1) are mainly intracellular; cystatins C, D, E/M, F, G, S, SN and SA cystatins are extracellular (type 2); and the kininogens are type 3 cystatins which are intravascular proteins. All true cystatins inhibit cysteine peptidases of the papain family, such as cathepsins, and some also inhibit legumain family enzymes. Cystatin SA, cystatin S and cystatin SN are found primarily in saliva. Cystatin S and SN can also be expressed in tears, urine and seminal fluid. Cystatin C is a related protein which is expressed in brain, thymus, ovary, epididymis and vas deferens. Cystatin D protects against proteinases in the oral cavity, while Cystatin E/M and F moderate the inhibition of cathepsin proteins. The fetuins, part of the cystatin superfamily, are secretable proteins that influence osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors and the response to systemic inflammation. High molecular weight kininogen (Kininogen HC) and low molecular weight kininogen (Kininogen LC) have varied roles, though they both inhibit the thrombin- and plasmin-induced aggregation of thrombocytes.

Supplier: Bioss

Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterised by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumour growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. The FAM96B gene product has been provisionally designated FAM96B pending further characterisation.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf113 gene product has been provisionally designated C1orf113 pending further characterization.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf163 gene product has been provisionally designated C1orf163 pending further characterization.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf163 gene product has been provisionally designated C1orf163 pending further characterization.

Supplier: Bioss

Vacuolar-type H+-ATPase (V-ATPase) is a multisubunit enzyme responsible for acidification of eukaryotic intracellular organelles. V-ATPases pump protons against an electrochemical gradient, while F-ATPases reverse the process, thereby synthesizing ATP. A peripheral V1 domain, which is responsible for ATP hydrolysis, and a integral V0 domain, which is responsible for proton translocation, compose V-ATPase. Nine subunits (AH) make up the V1 domain and five subunits (a, d, c, c' and c") make up the V0 domain. Like F-ATPase, V-ATPase most likely operates through a rotary mechanism. The V-ATPase V1 B subunit exists as two isoforms. In the inner ear, the V-ATPase B1 isoform functions in proton secretion and is required to maintain proper endolymph pH and normal auditory function. The gene encoding the human V-ATPase B1 isoform maps to chromosome 2cen-q13. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. The V-ATPase B2 isoform is expressed in kidney and is the only B isoform expressed in osteoclasts. The gene encoding the human V-ATPase B2 isoform maps to chromosome 8p22-p21.

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Uteroglobin belongs to the family of secretoglobins and is a secreted protein product of nonciliated bronchiolar Clara cells. There is convincing data suggesting it has phospholipase A2 inhibitory activity, as well as, a number of other immunomodulatory features including inhibition of interferon gamma signalling and Th1 vs. Th2 lymphocyte regulation. It was proposed as a potential peripheral marker of respiratory epithelial injury and bronchial dysfunction. Clara Cell Protein 16 concentrations have been determined in both serum and bronchoalveolar lavage fluid in numerous studies since 1994. In serum, its increase is associated with age, asbestos, nitrogen chloride and ozone exposure, sarcoidosis and high PEEP ventilation. Decreased serum CC16 levels are found after pulmonary resection, in silica-exposed workers, smokers and in asthma. Decreased CC16 concentrations were also found in the amniotic fluid of fetuses suffering from pulmonary hypoplasia caused by various mechanisms (diaphragmatic hernia, diabetic fetopathy, Turner and Down syndrome). In pleural effusions, the CC16 concentration appears to be associated with its diffusion from the lung as evidenced by high CC16 levels in cardiac pleural congestion.

Supplier: Bioss

Key regulator of entry into cell division that acts as a tumor suppressor. Promotes G-G1 transition when phosphorylated by CDK3/cyclin-C. Acts as a transcription repressor of E2F1 target genes. The underphosphorylated, active form of RB1 interacts with E2F1 and represses its transcription activity, leading to cell cycle arrest. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases SUV39H1, SUV42H1 and SUV42H2, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-2' trimethylation. Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity). In case of viral infections, interactions with SV4 large T antigen, HPV E7 protein or adenovirus E1A protein induce the disassembly of RB1-E2F1 complex thereby disrupting RB1's activity.

Supplier: Bioss

Aurora A plays a role in cell cycle regulation during anaphase and/or telophase, in relation to the function of the centrosome/spindle pole region during chromosome segregation. Aurora A plays a key role during tumor development and progression and is overexpressed in many human cancers including breast, ovarian and colourectal. Aurora A is viewed as a potential target for anticancer drug treatment.Aurora B is a mitotic protein kinase that phosphorylates histone H3 (probably on Serine 10), behaves as a chromosomal passenger protein, and may regulate several stages of mitosis such as centrosome separation, chromosome segregation and cytokinesis. It localises to the inner centromere region from prophase to anaphase. The Aurora kinases, members of the Ser/Thr protein kinase family, associate with microtubules during chromosome movement and segregation. Aurora kinase C may play a part in organising microtubules in relation to the function of the centrosome/spindle pole during mitosis. This protein is localised to centrosome from anaphase to cytokinesis. Expression is limited to testis in normal cells. Elevated expression levels are seen only in a subset of cancer cells such as HepG2, HuH7 and HeLa cells. Aurora-C expression is maximum at M phase.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf21 gene product has been provisionally designated C1orf21 pending further characterization.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf21 gene product has been provisionally designated C1orf21 pending further characterization.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf21 gene product has been provisionally designated C1orf21 pending further characterization.

Supplier: Bioss

The forkhead domain-containing gene family (Fox) comprises over 20 members in mammals and is defined by a conserved 110 amino-acid motif containing a winged helix structure DNA-binding domain. The members of this gene family have been implicated as key regulators of embryogenesis, cell cycling, cell lineage restriction and cancer. As such, FOXN2 contains a domain with homology to the forkhead DNA binding domain. FOXN2, or Human T-cell leukemia virus enhancer factor, is a 341 amino acid protein mapping to human gene FOXN2, which has been localized to human chromosome 2p16-p22. This protein, encoded by a 1239-bp cDNA isolated from the Jurkat cDNA library, is capable of binding to a region of the human T-cell leukemia virus long terminal repeat (HTLV-I LTR) located between amino acids 155 and 117. This purine-rich region is important in the regulation of gene expression by the Ets family of transcription factors. FOXN2 is a unique cellular gene that may function in the transcriptional regulation of HTLV-I LTR.

Supplier: Bioss

Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterised by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumour growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. The FAM96B gene product has been provisionally designated FAM96B pending further characterisation.

Supplier: Bioss

G-protein coupled receptor for the bioactive lysosphingolipid sphingosine 1-phosphate (S1P) that seems to be coupled to the G(i) subclass of heteromeric G proteins. Signaling leads to the activation of RAC1, SRC, PTK2/FAK1 and MAP kinases. Plays an important role in cell migration, probably via its role in the reorganisation of the actin cytoskeleton and the formation of lamellipodia in response to stimuli that increase the activity of the sphingosine kinase SPHK1. Required for normal chemotaxis toward sphingosine 1-phosphate. Required for normal embryonic heart development and normal cardiac morphogenesis. Plays an important role in the regulation of sprouting angiogenesis and vascular maturation. Inhibits sprouting angiogenesis to prevent excessive sprouting during blood vessel development. Required for normal egress of mature T-cells from the thymus into the blood stream and into peripheral lymphoid organs. Plays a role in the migration of osteoclast precursor cells, the regulation of bone mineralisation and bone homeostasis (By similarity). Plays a role in responses to oxidised 1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphocholine by pulmonary endothelial cells and in the protection against ventilator-induced lung injury.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf190 gene product has been provisionally designated C1orf190 pending further characterization.

Supplier: Bioss

Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf190 gene product has been provisionally designated C1orf190 pending further characterization.

Supplier: Bioss

The GGA family of proteins (Golgi-localized, ARF-binding proteins) are ubiquitous coat proteins that facilitate the trafficking of soluble proteins from the trans-Golgi network (TGN) to endosomes/lysosomes by means of interactions with TGN-sorting receptors, ARF (ADP-ribosylation factor), and clathrin (1?). Members of the GGA family, GGA1,GGA2 (also known as VEAR) and GGA3, are multidomain proteins that bind mannose 6-phosphate receptors (MPRs) (1,2,4). GGAs have modular structures with an N-terminal VHS (VPS-27, Hrs, and STAM) domain followed by a GAT (GGA and TOM1) domain, a connecting hinge segment, and a C-terminal GAE (?adaptin ear) domain (5). The amino-terminal VHS domains of GGAs form complexes with the cytoplasmic domains of sorting receptors by recognizing acidic-cluster di-leucine (ACLL) sequences (3). GGA1 and GGA2 do not associate with each other, but they do colocalize on perinuclear membranes (2). The cytosolic domain of memapsin 2, but not that of memapsin 1, binds the VHS domains of GGA1 and GGA2 (6). The human GGA1 gene maps to chromosome 22 and encodes a protein that shares 45% sequence identity with GGA2 and GGA3 (1).

Supplier: Bioss

Aurora A plays a role in cell cycle regulation during anaphase and/or telophase, in relation to the function of the centrosome/spindle pole region during chromosome segregation. Aurora A plays a key role during tumor development and progression and is overexpressed in many human cancers including breast, ovarian and colourectal. Aurora A is viewed as a potential target for anticancer drug treatment.Aurora B is a mitotic protein kinase that phosphorylates histone H3 (probably on Serine 10), behaves as a chromosomal passenger protein, and may regulate several stages of mitosis such as centrosome separation, chromosome segregation and cytokinesis. It localises to the inner centromere region from prophase to anaphase. The Aurora kinases, members of the Ser/Thr protein kinase family, associate with microtubules during chromosome movement and segregation. Aurora kinase C may play a part in organising microtubules in relation to the function of the centrosome/spindle pole during mitosis. This protein is localised to centrosome from anaphase to cytokinesis. Expression is limited to testis in normal cells. Elevated expression levels are seen only in a subset of cancer cells such as HepG2, HuH7 and HeLa cells. Aurora-C expression is maximum at M phase.

Supplier: Bioss

C1orf85, also known as Lysosomal protein NCU-G1, is a 406 amino acid single-pass membrane protein that is highly glycosylated on its amino-terminal end. Transcription of the gene encoding C1orf85 is activated by TFEB, a transcription factor that specifically recognizes and binds E-box sequences. There are two isoforms of C1orf85 that are produced as a result of alternative splicing events. The C1orf85 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.

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This new generation of tips form an excellent seal on both single- and multi-channel pipettes guaranteeing total recovery of the sample whilst protecting the technician against the risks of repetitive strain injury. The tips are manufactured with proprietary technologies for increased pipetting accuracy and precision.

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C1orf85, also known as Lysosomal protein NCU-G1, is a 406 amino acid single-pass membrane protein that is highly glycosylated on its amino-terminal end. Transcription of the gene encoding C1orf85 is activated by TFEB, a transcription factor that specifically recognizes and binds E-box sequences. There are two isoforms of C1orf85 that are produced as a result of alternative splicing events. The C1orf85 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.

Supplier: Bioss

C1orf85, also known as Lysosomal protein NCU-G1, is a 406 amino acid single-pass membrane protein that is highly glycosylated on its amino-terminal end. Transcription of the gene encoding C1orf85 is activated by TFEB, a transcription factor that specifically recognizes and binds E-box sequences. There are two isoforms of C1orf85 that are produced as a result of alternative splicing events. The C1orf85 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.