54117 Results for: "2,3-Dichlorobenzenesulphonyl+chloride&pageNo=48"

Supplier: Bioss

Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf46 gene product has been provisionally designated C7orf46 pending further characterisation.

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May play an important role in controlling cell growth and proliferation through the selective translation of particular classes of mRNA.

Supplier: Bioss

The NFKB complex consists of NFKB1 or NFKB2 bound to REL, RELA, or RELB. The NFKB complex is inhibited by I kappa B proteins (NFKBIA, or NFKBIB), which inactivate NF kappa B by trapping it in the cytoplasm. Phosphorylation of serine residues on the I kappa B proteins by kinases (IKBKA, or IKBKB,) marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF kappa B complex. For some genes, activation requires NFKB interaction with other transcription factors, such as STAT, AP1 (JUN), and NFAT.

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BarX1 belongs to the Bar subclass of the homeobox gene family. The function of this gene has not yet been determined; however, studies in the mouse and chick homolog suggest a role in developing teeth and craniofacial mesenchyme of neural crest origin. The role of these homologs implicates the human gene as a candidate for unmapped disorders involving tooth and jaw development.

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ABTB1 is a 478 amino acid protein localized to the cytoplasm. ABTB1 contains two ANK repeats and two BTB (POZ) domains. The BTB (POZ) domain is thought to be involved in protein-protein interactions, and may indicate a role of ABTB1 in developmental processes. It has also been suggested that ABTB1 may be a mediator of the PTEN growth-suppressive signaling pathway. ABTB1 is ubiquitously expressed in all fetal tissues, with lower levels of expression found in adult heart. ABTB1 exists as four isoforms produced by alternative splicing.

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Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKMY1 (ankyrin repeat and MYND domain containing 1), also known as ZMYND13 or TSAL1, is a 941 amino acid protein that contains seven ANK repeats, three MORN repeats and one MYND-type zinc finger. MORN repeats were first identified in junctophilins, cytoplasmic proteins involved in junctions between the plasma membrane and the ER/SR membrane. The presence of MORN repeats suggests that ANKMY1 may interact with the plasma membrane. The MYND domain consists of a cluster of cysteine and histidine residues, arranged with an invariant spacing to form a potential zinc-binding motif which may be involved in protein-protein interactions. Three isoforms of ANKMY1 exists due to alternative splicing events.

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Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008].

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The Zyxin family of proteins contains five members: Ajuba, Limd1, LPP, TRIP6 and Zyxin. Limd1 (LIM domain-containing protein 1) is a ubiquitously expressed tumor suppressor containing 3 LIM zinc-binding domains. LIM domains consist of a cysteine-rich consensus sequence containing two distinct zinc-binding subdomains, which mediate protein-protein interactions. Limd1 interacts with the proteins SQSTM1, Rb, p62 and TRAF6. Limd1 was first identified when the deletion of its gene was noted in some cervical cancers. Limd1 blocks in vitro and in vivo tumor growth and is down-regulated in lung cancer. Limd1 may regulate osteoclast development under stressful conditions via its interactions with TRAF6 and p62.

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Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25-hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23-hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product.

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Unrip is part of the SMN complex that plays a role in snRNP assembly in the cytoplasm and pre mRNA splicing in the nucleus. Unrip interacts directly with Gemin 6 and Gemin 7 in the SMN complex. It is associated with the complex in the cytoplasm but not in the nucleus and thus is thought to play a role in it's subcellular localisation.It is a ubiquitously expressed protein that acts as an inhibitor of TGF-beta signaling and an important regulator of cell proliferation. Stable expression of STRAP results in activation of the mitogen-activated protein kinase/extracellular signal-regulated kinase pathway and in down-regulation of the cyclin-dependent kinase inhibitor p21 (Cip1), which results in retinoblastoma protein hyperphosphorylation. Upregulation of STRAP might play a role in tumor development as an early event for colorectal cancers. It is the first component of the U snRNP assembly machinery that associates with SMN complex in a compartment-specific way and plays a crucial role in the intracellular distribution of SMN1.

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Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF704 is a 412 amino acid nuclear protein that contains one C2H2-type zinc finger. The gene encoding ZNF704 maps to human chromosome 8, which is made up of nearly 146 million bases and encodes about 800 genes. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.

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Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.

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APS (adapter protein with Pleckstrin homology and Src homology 2 domains) is a member of the Lnk family, an adaptor protein that is involved in B cell signaling, insulin signaling and cytoskeletal reorganisation. A PH and an SH2 domain containing adaptor protein that links activated tyrosine kinases to signaling pathways. It is tyrosine phosphorylated by JAK2, KIT and other kinases during B cell receptor stimulation of many different cytokines, chemokines and leukokines. APS has been shown to inhibit the JAK STAT pathway in collaboration with cCbl.

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Influenza A and B are the two types of influenza viruses that cause epidemic human disease. Influenza type C infections cause a mild respiratory illness and are not thought to cause epidemics. Influenza A viruses are further categorized into subtypes on the basis of two surface antigens: hemagglutinin (H) and neuraminidase (N). Strains are also described by geographic origin, strain number and year of isolation.

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Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is a rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.

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Selenium is an essential trace element that confers tolerance to toxicity arising through exposure to heavy metals or other reactive xenobiotics. Selenium exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. Both effects are attributed to selenium-binding proteins. Selenium binding protein 1 is down-regulated in lung adenocarcinoma, colorectal cander and ovarian cancer. It is two-fold upregulated in the brains of patients suffering from schizophrenia, and is therefore a biomarker for this disease.

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Regulates activation of NF-kappa-B and JNK and plays a central role in the regulation of cell survival and apoptosis. Required for normal antibody isotype switching from IgM to IgG. Has E3 ubiquitin-protein ligase activity and promotes 'Lys-63'-linked ubiquitination of target proteins, such as BIRC3, RIPK1 and TICAM1. Is an essential constituent of several E3 ubiquitin-protein ligase complexes, where it promotes the ubiquitination of target proteins by bringing them into contact with other E3 ubiquitin ligases. Regulates BIRC2 and BIRC3 protein levels by inhibiting their autoubiquitination and subsequent degradation; this does not depend on the TRAF2 RING-type zinc finger domain. Plays a role in mediating activation of NF-kappa-B by EIF2AK2/PKR. In complex with BIRC2 or BIRC3, promotes ubiquitination of IKBKE.

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The RAD23 gene of Saccharomyces cerevisiae is required for excision-repair of UV damaged DNA (1). RAD23 resembles the other DNA repair genes, RAD2, RAD6, RAD7, RAD18, and RAD54, all of which also exhibit increased transcription in response to DNA damage and during meiosis (2). RAD23 encodes a nuclear protein containing a ubiquitin-like domain required for biological function (3). RAD23 bears a ubiquitin-like domain at its amino terminus and this ubiquitin-like domain affects protein function in a nonproteolytic manner (3). Rad23 is a highly conserved protein involved in nucleotide excision repair (NER) that associates with the proteasome via its amino-terminus (4). Its carboxy-terminal ubiquitin-associated domain is evolutionarily conserved from yeast to humans (4). In addition to a role in DNA repair events in yeast, several lines of evidence indicate that the Rad23 protein may regulate the activity of the 26 S proteasome (5).

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Immediate-early transcription factor that controls the initiation of viral lytic gene expression and lytic reactivation from latency. Triggers lytic replication, and initiates a cellular senescence program in epithelial cells. Upregulates human DCR3/TNFRSF6B by directly binding to its receptor.

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This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009].

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REEP5 is a 189 amino acid multi-pass membrane protein. Thought to promote the functional cell surface expression of olfactory receptors, REEP5 belongs to the DP1 family and is encoded by a gene that maps to chromosome 5. With 181 million base pairs encoding around 1,000 genes, chromosome 5 is about 6% of human genomic DNA. Chromosome 5 is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.

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Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.Involvement in disease:Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) . DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.Defects in TBX1 are a cause of DiGeorge syndrome (DGS) .Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) .Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.

Supplier: Bioss

Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity.

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Defects in NOD2 are the cause of sarcoidosis early-onset (EOS) . EOS is a form of sarcoidosis manifesting in children younger than 4 years of age. Sarcoidosis is an idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Early-onset sarcoidosis is quite rare and has a distinct triad of skin, joint and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, early-onset sarcoidosis is progressive and in many cases causes severe complications, such as blindness, joint destruction and visceral involvement.

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Membrane-associated guanylate kinase (MAGUK) family members function as molecular scaffolds for the assembly of multiprotein complexes localizing to the plasma membrane. Several mammalian proteins related to the Drosophila tumor suppressor discs-large (dlg) gene product belong to the MAGUK family. MAGUK family members include the postsynaptic proteins PSD-93, DLG5, Pals1, PSD-95 (SAP 90), densin-180, NE-dlg (SAP 120), dlg-1 (SAP 97), GKAP (GK-associated protein), p55, the tight junction associated proteins ZO-1-3 and the caspase-associated recruitment domain (CARD) proteins CARD6, CARD8-12 and CARD14. DLG5, a cell-cell junction peripheral membrane protein, plays an important role in maintaining the structure of epithelial cell plasma membranes. It also plays an important part in transmitting extracellular signals to the cytoskeleton and the membrane. DLG5 which can interact with MPP1 and CTNNB1, is primarily expressed in prostate and placenta.

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Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The C9orf62 gene product has been provisionally designated C9orf62 pending further characterisation.

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Summary: DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].

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Binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of complementary single-stranded DNAs and D-loop formation in superhelical double-stranded DNA. May play a role in maintenance of genomic integrity.

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PPM2C is a protein similar to members of the protein phosphatase 2C (PP2C) family. It is a catalytic subunit of the mitochondrial matrix phosphatase and is involved in reactivation of the pyruvate dehydrogenase complex.

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ErbB3 is a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. ErbB3 is a membrane-bound protein which has a neuregulin binding domain but not an active kinase domain. It can therefore bind this ligand but cannot convey a signal into the cell via protein phosphorylation. However it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers including prostate, bladder and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. Isoform 2 lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported but they have not been thoroughly characterized. Defects in ERBB3 are the cause of lethal congenital contracture syndrome type 2 (LCCS2); also called Israeli Bedouin multiple contracture syndrome type A. LCCS2 is an autosomal recessive neurogenic form of a neonatally lethal arthrogryposis that is associated with atrophy of the anterior horn of the spinal cord.