基因名:
COLGALT2
产品别名:
C1orf17; ColGalT 2; GLT25D2; COLGALT2; collagen beta(1-O)galactosyltransferase 2; collagen beta(1-O)galactosyltransferase 2; procollagen galactosyltransferase 2; glycosyltransferase 25 domain containing 2; glycosyltransferase 25 family member 2; hydroxylysine galactosyltransferase 2; 糖基转移酶25结构域2/前胶原半乳糖基转移酶2;
背景信息:
GLT25D2 is a 626 amino acid protein that localizes to endoplasmic reticulum lumen and belongs to the glycosyltransferase 25 family. Possessing beta-galactosyltransferase activity, GLT25D2 transports beta-galactose to hydroxylysine residues on collagen but lacks glucosyltransferase activity. GLT25D2 is expressed in skeletal muscle and brain, and is encoded by a gene located on human chromosome 1q25.3, a region associated with the hereditary prostate cancer (HPC1) locus. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome.