Gene Symbol | GALNT3 |
Entrez Gene ID | 2591 |
Full Name | polypeptide N-acetylgalactosaminyltransferase 3 |
Synonyms | GalNAc-T3,HFTC,HHS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3) |