Aliases for MGAT2 Gene
External Ids for MGAT2 Gene
Previous GeneCards Identifiers for MGAT2 Gene
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]
GeneCards Summary for MGAT2 Gene
MGAT2 (Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase) is a Protein Coding gene. Diseases associated with MGAT2 include Congenital Disorder Of Glycosylation, Type Iia and Congenital Dyserythropoietic Anemia. Among its related pathways are Transport to the Golgi and subsequent modification and N-glycan antennae elongation in the medial/trans-Golgi. GO annotations related to this gene include carbohydrate binding and alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.
UniProtKB/Swiss-Prot for MGAT2 Gene
Catalyzes an essential step in the conversion of oligo-mannose to complex N-glycans.