Entrez gene ID | | 4247 |
Official gene symbol | | MGAT2 |
Full name | | mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase |
Aliases | | ,CDG2A,CDGS2,GLCNACTII,GNT-II,GNT2, |
Gene summary | | The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq] |
Location | | Chromosome: 14 Locus: 14q21 |
Gene position | | 50087489 - 50090199 Map Viewer |
Gene orientation | | plus |
Gene size | | 2711 bp |
Gene sequence |
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OMIM ID | | 602616 |
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