Aliases for COLGALT1 Gene
External Ids for COLGALT1 Gene
Previous HGNC Symbols for COLGALT1 Gene
Previous GeneCards Identifiers for COLGALT1 Gene
The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]
GeneCards Summary for COLGALT1 Gene
COLGALT1 (Collagen Beta(1-O)Galactosyltransferase 1) is a Protein Coding gene. Diseases associated with COLGALT1 include Brain Small Vessel Disease 3 and Cone-Rod Dystrophy And Hearing Loss 2. Among its related pathways are Lysine degradation and Other types of O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include procollagen galactosyltransferase activity. An important paralog of this gene is COLGALT2.
UniProtKB/Swiss-Prot for COLGALT1 Gene
Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of type I collagen (PubMed:19075007, PubMed:22216269, PubMed:27402836). By acting on collagen glycosylation, facilitates the formation of collagen triple helix (PubMed:27402836).