Order Entry
Northern Ireland
Orders LinkContactUsLinkComponent
6333 results for "EQ1+NHS+ester&pageNo=31&view=list"

6333 Results for: "EQ1+NHS+ester&pageNo=31&view=list"

Anti-MATH2/NEUROD6 Rabbit Polyclonal Antibody (Alexa Fluor® 680)

Supplier: Bioss

The Drosophila atonal gene produces a protein with basic helix loop helix (bHLH) domains that plays an essential role in the development of the Drosophila nervous system. Mammalian atonal homolog 2 (MATH-2) is a helix-loop-helix (HLH) transcription factor that is structurally homologous to the product of Drosophila atonal gene. MATH-2 is a 337 amino acid protein with an atonal-related basic HLH domain. In mice, expression of MATH-2 takes place by embryonic day 11.5 and initially localizes to the wall of brain vesicles and in the spinal cord. It is expressed in the cortical plate and the mantle layer in the developing central nervous system, and is limited to the nervous system in adults. Adult mouse cerebrums produce a high level of MATH-2 RNA with lower levels in other neuronal tissues. Research studies suggest that MATH-2 may function as a trans-acting factor involved in the development and maintenance of the mammalian nervous system.

Expand 1 Items
Loading...

Anti-HDAC3/HD3 Rabbit Polyclonal Antibody (Alexa Fluor® 680)

Supplier: Bioss

Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4), and some other non-histone substrates. Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Participates in the BCL6 transcriptional repressor activity by deacetylating the H3 'Lys-27' (H3K27) on enhancer elements, antagonizing EP300 acetyltransferase activity and repressing proximal gene expression. Probably participates in the regulation of transcription through its binding to the zinc-finger transcription factor YY1; increases YY1 repression activity. Required to repress transcription of the POU1F1 transcription factor. Acts as a molecular chaperone for shuttling phosphorylated NR2C1 to PML bodies for sumoylation.

Expand 1 Items
Loading...

Anti-C1orf77 Rabbit Polyclonal Antibody (Cy5®)

Supplier: Bioss

C1orf77, also known as Friend of PRMT1 protein, is a 248 amino acid protein that plays an essential role in the ligand-dependent activation of estrogen receptor target genes. C1orf77 is tightly associated with chromatin and is modified by both asymmetric and symmetric arginine methylation. Depletion of C1orf77 results in almost complete block of estradiol-induced promter occupancy by the estrogen receptor. Also, complete knockdown of C1orf77 mRNA in adult erythroid progenitors stongly induces fetal hemoglobin, suggesting that C1orf77 is a critical modulator of _-globin gene expression. There are two isoforms of C1orf77 that are produced as a result of alternative splicing events. The gene encoding C1orf77 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.

Expand 1 Items
Loading...

Anti-C8ORF74 Rabbit Polyclonal Antibody (ALEXA FLUOR® 680)

Supplier: Bioss

C8orf74 (chromosome 8 open reading frame 74) is a 294 amino acid protein encoded by a gene that maps to human chromosome 8p23.1. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

Expand 1 Items
Loading...
Quantitative filter papers, ashless grades, MN 640

Quantitative filter papers, ashless grades, MN 640

Supplier: MACHEREY-NAGEL

These quantitative filter papers are made from refined pulp and linters. They are purified in a highly developed clean-up process to remove organic and inorganic impurities. This ensures a low ash content of <0,01 %. They are consistent performance and give safe results in gravimetric analyses.

Expand 1 Items
Loading...
Immobiline™ DryStrip gels

Immobiline™ DryStrip gels

Supplier: Cytiva

Immobiline™ DryStrip gels (IPG strips) are used for isoelectric focusing (IEF), run as the first dimension of 2-D electrophoresis or as a separate application. IPG strips contain a preformed pH gradient immobilised in precast polyacrylamide gels on a plastic backing. A comprehensive range of overlapping IPG strips covering narrow, medium, and wide pH ranges are available in various strip lengths, and the strips are individually packaged and bar coded for convenient handling and sample tracking.

Expand 1 Items
Loading...

High-pressure measuring instrument operated with smartphone, testo 549i

Supplier: Testo

Compact professional measuring instrument from the Testo Smart Probes series for use with smartphones/tablets.

Expand 1 Items
Loading...
Human SLC31A1/CTR1 ELISA Kit

Human SLC31A1/CTR1 ELISA Kit

Supplier: Antibodies.com

Human SLC31A1/CTR1 ELISA kit is a 90 minutes sandwich Enzyme-Linked Immunosorbent Assay (sELISA) designed for the in vitro quantitative determination of human SLC31A1/CTR1 in serum, plasma, and other biological fluids.

Expand 1 Items
Loading...
Single-channel pipettes, mechanical, fixed / variable volume, Finnpipette™ F2

Single-channel pipettes, mechanical, fixed / variable volume, Finnpipette™ F2

Supplier: Thermo Fisher Scientific

Finnpipette™ F2 offers superior robustness and durability even in the most demanding applications.

   Sustainable Options Available
Expand 1 Items
Loading...
Wrap-Around Cryogenic Thermal Transfer Labels

Wrap-Around Cryogenic Thermal Transfer Labels

Supplier: GA

Transparent cryogenic self-laminating labels for thermal transfer printers. Their clear laminate protects the printed information from alcohols and detergents to ensure the secure identification of tubes and cryo vials. These labels will also withstand prolonged storage under cryogenic conditions, including in liquid phase and vapor phase liquid nitrogen.

Expand 1 Items
Loading...
Trousers, Fristads® PR54-220, Design B, black

Trousers, Fristads® PR54-220, Design B, black

Supplier: FRISTADS KANSAS

Thanks to their durability and comfort, these trousers are perfectly suitable for use in garages as well as in industrial and service companies. The material is made of 65% polyester and 35% cotton. The inside is brushed and provides a comfortable cotton feel. The outside is very hardwearing and does not bleach, even after countless washes.

Expand 1 Items
Loading...

Anti-C1orf54 Rabbit Polyclonal Antibody (Cy5®)

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 C1orf54 gene product has been provisionally designated C1orf54 pending further characterization.

Expand 1 Items
Loading...

Anti-C1ORF111 Rabbit Polyclonal Antibody (Cy3®)

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 C1orf111 gene product has been provisionally designated C1orf111 pending further characterization.

Expand 1 Items
Loading...

Anti-TANC1 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

TANC (tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein), also known as TANC1, is a 1861 amino acid postsynaptic cell membrane protein that contains eleven ANK repeats, three TPR repeats and belongs to the TANC family. Considered a scaffolding component in the postsynaptic density, TANC interacts with TNIK, SAPAP1, Alpha-internexin, CaMKII, NMDA 2 and GluR-1. It is also thought that TANC interacts directly with SAP 97, PSD-95 and Homer. Upon stimulation by Rap 2, MINK1 and TNIK may phosphorylate TANC. The TANC gene encodes two alternatively spliced isoforms, contains approximately 264025 bases and maps to human chromosome 2q24.2. Making up approximately 8% of the human genome, chromosome 2 consists of 237 million bases and encodes over 1400 genes. A number of genetic diseases are linked to genes on chromosome 2 including Harlequin icthyosis, sitosterolemia and Alstr syndrome.

Expand 1 Items
Loading...

Anti-C1ORF111 Rabbit Polyclonal Antibody (Cy7®)

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 C1orf111 gene product has been provisionally designated C1orf111 pending further characterization.

Expand 1 Items
Loading...

Anti-TIMM8A Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

The majority of mitochondrial-directed proteins are encoded by the nuclear genome and are transported to the mitochondria via regulated processes involving the mitochondrial Tom and Tim proteins. The mitochondrial Tim protein family is comprised of a large group of evolutionarily conserved proteins that are found in most eukaryotes. Import of nuclear-encoded precursor proteins into and across the mitochondrial inner membrane is mediated by two distinct complexes, the Tim23 complex and the Tim22 complex, which differ in their substrate specificity. Defects in Tim proteins are implicated in several neuro-degenerative diseases, suggesting important roles for Tim proteins in development and health. Tim8A and Tim8B, which map to human chromosomes Xq22.1 and 11q23.1-q23.2, respectively, are conserved proteins of the mitochondrial intermembrane space, which are organized in hetero-oligomeric complex with Tim13. Tim8A is highly expressed in fetal and adult brain. Tim8A is mutated in deafness dystonia syndrome, a novel type of disease that causes severe neurological defects, thought to be caused by a defective mitochondrial protein transport system.

Expand 1 Items
Loading...

Anti-C1orf54 Rabbit Polyclonal Antibody (Cy3®)

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 C1orf54 gene product has been provisionally designated C1orf54 pending further characterization.

Expand 1 Items
Loading...

Anti-Exonuclease 1 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

Comparative evaluation of the expression patterns of the human and mouse genes, combined with previous biochemical and yeast genetic studies, indicate that the Exo1 (Exonuclease I) proteins are important contributors to chromosome processing during mammalian DNA repair and recombination. In mice, the Exo1 gene maps to distal chromosome 1, consistent with the recent mapping of the orthologous human HEX1/EXO1 gene to chromosome 1q43. Exo1 is expressed prominently in testis, an area of active homologous recombination, and spleen, a prominent lymphoid tissue. In both mammalian and yeast systems, Exo1 is a 5'-3' double stranded DNA exonuclease that has previously been implicated in DNA mismatch repair (MMR). The MMR system ensures genome integrity by removing mispaired and unpaired bases that originate during replication. In humans, Exo1 interacts with MSH2 and MLH1 and has been proposed to be a redundant exonuclease in MMR. In both mammalian and yeast systems, Exo1 plays a structural role in MMR and stabilises multiprotein complexes containing a number of MMR proteins.

Expand 1 Items
Loading...

Microscope documentation cameras

Supplier: LEICA MICROSYSTEMS

Leica (brightfield) colour cameras provide outstanding colour fidelity due to state-of-the-art colour interpolation algorithms performed in the camera head. Leica fluorescence cameras provide high sensor sensitivity allowing short exposure times and, therefore, preventing photo bleaching, so actively protecting cells from any photo damage.

Expand 6 Items
Loading...

Anti-PGCP Rabbit Polyclonal Antibody (Alexa Fluor® 680)

Supplier: Bioss

PGCP is a 472 amino acid secreted protein that is primarily detected in blood plasma. PGCP is a carboxypeptidase that potentially is involved in the hydrolysis of circulating peptides. Due to its upregulation in hepatocellular carcinoma (HCC), it is suspected that PGCP may be a potential serological marker for HCC. PGCP is a member of the Peptidase M28 family of proteins, which also includes PSM (prostate-specific membrane antigen), metallopeptidases and aminopeptidases. The gene encoding PGCP maps to chromosome 8, which is made up of nearly 146 million bases and encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukaemias and lymphomas, and are typically associated with a poor prognosis. In humans, PGCP is found principally in blood plasma. It is a Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides.

Expand 1 Items
Loading...

Anti-C8ORF74 Rabbit Polyclonal Antibody (ALEXA FLUOR® 555)

Supplier: Bioss

C8orf74 (chromosome 8 open reading frame 74) is a 294 amino acid protein encoded by a gene that maps to human chromosome 8p23.1. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

Expand 1 Items
Loading...

Anti-RNF31 Rabbit Polyclonal Antibody (HRP (Horseradish Peroxidase))

Supplier: Bioss

E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex. Together with FAM105B/otulin, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types.

Expand 1 Items
Loading...

Anti-C8ORF74 Rabbit Polyclonal Antibody (ALEXA FLUOR® 750)

Supplier: Bioss

C8orf74 (chromosome 8 open reading frame 74) is a 294 amino acid protein encoded by a gene that maps to human chromosome 8p23.1. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

Expand 1 Items
Loading...
Ampoule breaker, box style, Break-Safe™, SP Bel-Art

Ampoule breaker, box style, Break-Safe™, SP Bel-Art

Supplier: Bel-Art Products, a Part of SP

The box style design of the ampoule opener allows one handed opening of up to 3 ampoules at a time by simply pressing down on lid. Ampoule necks are snapped clean and are contained within the device while fingers stay away from sharp edges. After removing ampoule contents, turning the device upside down over a trash receptacle can safely discard ampoules and tops. Made from transparent copolyester plastic.

Expand 1 Items
Loading...
Microbiological incubators, with or without forced convection, BD and BF series

Microbiological incubators, with or without forced convection, BD and BF series

Supplier: Binder

Two versions of these incubators with electronically controlled APT.line™ preheating chamber are available depending on the application: The BD series with natural convection for all standard applications and the BF series with forced convection for applications with high load density.

Expand 3 Items
Loading...

Anti-APOC2 Rabbit Polyclonal Antibody (Alexa Fluor® 750)

Supplier: Bioss

Apolipoproteins are protein components of plasma lipoproteins. The apolipoprotein C gene family encodes four homologous proteins designated apoC-I to -IV, which specifically modulate the metabolism of triglyceride-rich lipoproteins. The human apoC-I gene maps to chromosome 19q13.2 and is expressed primarily in the liver where it is activated when monocytes differentiate into macrophages. The human apoC-II gene maps to chromosome 19q13.2 and encodes a 79 amino acid single chain protein that is a necessary cofactor for the activation of lipoprotein lipase, the enzyme that hydrolyses triglycerides in plasma and transfers the fatty acids to tissues. The human apoC-III gene maps to chromosome 11q23 and encodes a protein that may delay catabolism of triglyceride-rich particles by inhibiting lipoprotein lipase and hepatic lipase. The human apoC-IV gene maps to chromosome 19q13.2 and encodes a 127 amino acid protein that is primarily expressed in the liver.

Expand 1 Items
Loading...

Anti-C8ORF74 Rabbit Polyclonal Antibody (Cy5)

Supplier: Bioss

C8orf74 (chromosome 8 open reading frame 74) is a 294 amino acid protein encoded by a gene that maps to human chromosome 8p23.1. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

Expand 1 Items
Loading...

Anti-C8ORF74 Rabbit Polyclonal Antibody (Cy7)

Supplier: Bioss

C8orf74 (chromosome 8 open reading frame 74) is a 294 amino acid protein encoded by a gene that maps to human chromosome 8p23.1. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

Expand 1 Items
Loading...

Anti-C8orf74 Rabbit Polyclonal Antibody (Alexa Fluor® 647)

Supplier: Bioss

C8orf74 (chromosome 8 open reading frame 74) is a 294 amino acid protein encoded by a gene that maps to human chromosome 8p23.1. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukaemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

Expand 1 Items
Loading...

Anti-C8orf31 Rabbit Polyclonal Antibody

Supplier: Bioss

Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The C8orf31 gene product has been provisionally designated C8orf31 pending further characterization.

Expand 1 Items
Loading...
Recommended for You