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Description:
Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localises to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified.
Description:
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localises to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI).
Description:
Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. BBS patients also have an increased risk of developing diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder mapping to eight genetic loci and encoding eight proteins, BBS1-BBS8. Five BBS proteins encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS2 contains two overlapping genes: BBS2L1 and BBS2L2. BBSL1 was re-named BBS7, whereas BBS2L2 independently funcitons as BBS1. BBS7 contains 672 amino acids and is expressed at low to moderate levels in most human tissues.
Description:
The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment.
Description:
The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene.
Description:
Fish, a potential Src substrate, is a broadly expressed adaptor protein containing five SH3 domains and a phox homology (PX) domain. The Src family of protein tyrosine kinases act in signal transduction pathways. Src kinases vary in expression but are strongly regulated in vivo; catalytic activity is repressed by interacting with the SH3 domain. In Src-transformed fibroblasts and in normal cells treated with certain growth factors fish is tyrosine-phosphorylated. Treatment of cells with cytochalasin D results in rapid tyrosine phosphorylation of fish, along with activation of Src. Fish is likely to be involved in tyrosine kinase Signalling and may have a role in cytoskeletal changes.
Description:
CHCHD5 is a 110 amino acid protein that contains one CHCH domain. The gene encoding CHCHD5 maps to human chromosome 2, which consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstré°‰ syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
Description:
FMRFamide related peptides are morphine modulating peptides that have many physiologic effects, including the modulation of morphine induced analgesia, elevation of arterial blood pressure, and increased somatostatin secretion from the pancreas. Neuropeptide FF potentiates and sensitizes ACCN2 and ACCN3 channels.
Description:
FAM36A is a multi-pass membrane protein. It belongs to the FAM36 family. The exact function of FAM36A remains unknown.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 FAM36A gene product has been provisionally designated FAM36A pending further characterization.
Description:
The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP sialic acid to galactose-containing substrates. The encoded protein, which is normally found in the Golgi apparatus but which can be proteolytically processed to a soluble form, is involved in the generation of the cell surface carbohydrate determinants and differentiation antigens HB6, CDw75, and CD76. This protein is a member of glycosyltransferase family 29. Three transcript variants encoding two different isoforms have been found for this gene.
Description:
Receptor for complement C3Dd, for the Epstein-Barr virus on human B-cells and T-cells and for HNRPU. Participates in B lymphocytes activation.
Description:
Receptor for complement C3Dd, for the Epstein-Barr virus on human B-cells and T-cells and for HNRPU. Participates in B lymphocytes activation.
Description:
Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17. The FAM134C gene product has been provisionally designated FAM134C pending further characterization.
Description:
Gross cystic disease is a common premenopausal disorder in which gross cysts are the predominant pathologic lesion. It is characterized by production of a fluid secretion which accumulates in the breast cysts. Gross cystic disease fluid is a pathologic secretion from breast composed of several glycoproteins, including a unique 15 kDa monomer protein, GCDFP 15. The cells within the body that produce GCDFP 15 appear to be restricted primarily to those with apocrine function. Studies have found GCDFP 15 to be a highly specific and sensitive marker for breast cancer.
UOM:
1 * 100 µl
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