Protein Name | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
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Organism | Homo sapiens |
Gene ID | 4247 |
Gene Symbol | MGAT2 |
UniProt | Q10469 (MGAT2_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
54
Total Number of Articles : 42 |
Description |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
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, Jul 2008] |
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Properties | |