MGAT2


Description

The MGAT2 (alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase) is a protein-coding gene located on chromosome 14.

MGAT2, the gene encoding alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase, is responsible for producing an enzyme crucial for the conversion of oligomannose to complex N-glycans in the Golgi apparatus. This enzyme exhibits typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in MGAT2 can lead to carbohydrate-deficient glycoprotein syndrome, type II. Notably, the coding region of MGAT2 is intronless. While transcript variants with a spliced 5' UTR have been identified, their biological significance remains unclear.

MGAT2 is also known as CDG2A, CDGS2, GLCNACTII, GNT-II, GNT2.

Associated Diseases


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