Gene Symbol | B3GALNT2 |
Entrez Gene ID | 148789 |
Full Name | beta-1,3-N-acetylgalactosaminyltransferase 2 |
Synonyms | B3GalNAc-T2,MDDGA11 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3) |