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Description:
RelevanceThe function of CAGE1 remains unknown. It has testis-specific expression in normal tissues, but wide expression among cancer tissues and cell lines. There are 4 named isoforms produced by alternative splicing.
Description:
Expressed in testis and ovary and in a wide variety of cancers. Detected in uterine myometrium. Expressed from 18 weeks until birth in human fetal testis. In the adult testis, is strongly expressed in spermatogonia and in primary spermatocytes, but not in post-meiotic cells or in testicular somatic cells (at protein level).
Description:
Hsp22 (HSPB8) is a 196-amino acid protein that contains a central portion homologous to a highly conserved HSP-alpha crystallin domain common to all the small heat shock protein (HSP20) family members. Hsp22 is a monomeric protein which interacts with HSPB1. It displays temperature-dependent chaperone activity. The highest abundance of Hsp22 is in skeletal muscle, heart, and placenta. Mutations in the HSPB8 gene are associated with the inherited peripheral neuropathies, autosomal dominant distal hereditary motor neuropathy type IIA (dSMA) and axonal Charcot-Marie-Tooth disease type 2L (CMT2L).
Description:
HOXB4 is a homeodomain-containing transcription factor with diverse roles in embryonic development and the regulation of adult stem cells. It promotes proliferation of hematopoietic stem cells and can both activate and repress apoptosis.
Description:
May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake.
Description:
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene is the von Willebrand Factor (vWF)-cleaving protease, which is responsible for cleaving at the site of Tyr842-Met843 of the vWF molecule. A deficiency of this enzyme is associated with thrombotic thrombocytopenic purpura. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2008].
Description:
Hepatitis A virus (HAV) is classified with the enterovirus group of the Picornaviridae family. Many other picornaviruses cause human disease, including polioviruses, coxsackieviruses, echoviruses, and rhinoviruses (cold viruses). The term hepatitis A (HA) or type A viral hepatitis has replaced all previous designations: infectious hepatitis, epidemic hepatitis, epidemic jaundice, catarrhal jaundice, infectious icterus, Botkins disease, and MS-1 hepatitis.
Description:
Members of the Ankyrin family of proteins mediate the attachment of integral membrane proteins to the cytoskeleton. ANK1, ANK2 and ANK3 genes encode for the proteins in this family, Ankyrin-1 (also designated Ankyrin R), Ankyrin B and Ankyrin G, respectively. The proteins are structured similarly each composed of an N-terminal domain with multiple ankyrin repeats, a highly conserved central spectrin binding domain, and C-terminal regulatory domains which are susceptible to the most variance. Both Ankyrin B and Ankyrin G are essential for normal neuronal functions. Ankyrin B, or brain Ankyrin is predominantly expressed in the plasma membrane of neurons as well as glial cells throughout the brain. Two transcripts have been described with alternative splicing resulting in additional isoforms. The Ankyrin B protein associates with the spectrin-actin network, mediates axon fasciculation, and stabilizes axon bundles. Ankyrin B is required for coordinated assembly of Na/Ca exchanger, Na/K ATPase, and inositol trisphosphate (InsP(3)) receptor at transverse-tubule/sarcoplasmic reticulum sites in cardiomyocytes.
Description:
ADAMTSL4 is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like family and has seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.ADAMTSL4 is involved in the positive regulation of apoptosis.
Description:
ADAMTS proteases are secreted enzymes containing a prometalloprotease domain of the reprolysin type. The ADAMTS proteases function in processing of procollagens and von Willebrand factor as well as catabolism of aggrecan, versican and brevican. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration.A member of the metalloproteinase family containing disintegrin like domains (ADAMs), the function of ADAMTS8 is still poorly understood. ADAMTS8 contains the canonical HExxHxxxxxH zinc metalloproteinase motif, and has been shown to be proteolytically active on a range of substrates. ADAMTS8 is inhibited by the endogenous MMP inhibitors, TIMP1, 2, 3 and 4, but most efficiently by TIMP3. In addition to the metalloprotease domain, ADAMTS8 has a propeptide domain, a Prohormone Convertase (PC, furin) cleavage site, a cysteine rich domain and thrombospondin 1 like domains.
Description:
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. ZDHHC12 (zinc finger, DHHC domain containing 12), also known as ZNF400, is a 267 amino acid multi-pass membrane protein that contains one DHHC-type zinc finger and is thought to function as a palmitoyltransferase, catalyzing the transformation of palmitoyl-CoA and a cysteine-conjugated protein to a S-palmitoyl protein and free CoA. Three isoforms exist due to alternative splicing events. The gene encoding ZDHHC12 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Chromosome 9 is 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.
Description:
Estrogen receptors (ER) are members of the steroid/thyroid hormone receptor superfamily of ligand-activated transcription factors. Estrogen receptors, including ER alpha and ER beta, contain DNA binding and ligand binding domains and are critically involved in regulating the normal function of reproductive tissues. ER alpha and ER beta A have been shown to be differentially activated by various ligands. Receptor-ligand interactions trigger a cascade of events, including dissociation from heat shock proteins, receptor dimerization, phosphorylation and the association of the hormone activated receptor with specific regulatory elements in target genes. Evidence suggests that ER alpha and ER beta may be regulated by distinct mechanisms even though they share many functional characteristics.
Description:
Lymphocyte phosphatase-associate Phosphoprotein (LPAP) is a transmembrane phosphoprotein of 32 kD, which is only stable when expressed in the presence of the CD45 glycoprotein. It is expressed on both resting and activated T and B lymphocyte, NK cells and thymocytes. Terminally differentiated plasma cells, granulocytes and monocytes do not express LPAP.
Description:
The breast cancer susceptibility gene (BRCA1) localizes to chromosome 17q. Mutations within this gene account for approximately 45% of families with high incidence of breast cancer and at least 80% of families with increased incidence of both early-onset breast cancer and ovarian cancer. A second breast cancer susceptibility gene, BRCA2, located on chromosome 13q12-13, also confers a high incidence of breast cancer, but unlike BRCA1, BRCA2 does not confer a substantially elevated risk of ovarian cancer. The BRCA2-Associated Factor 35 (BRAF35) protein forms a complex with BRCA2, which associates with condensed chromatin during histone H3 phosphorylation. BRAF35 expression levels are highest in proliferating tissues and parallel BRCA2 expression patterns. The structure of BRAF35 includes a kinesin-like coiled coil domain and a nonspecific DNA binding HMG domain. The chromatin localization of BRAF35 and antibody microinjection studies indicate a role for the BRAF35/BRCA2 complex in cell cycle regulation.
UOM:
1 * 100 µl
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