MUT Proteins

Protein Information

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.

同义词

D230010K02Rik; Mcm; methylmalonyl CoA mutase; methylmalonyl Coenzyme A mutase; methylmalonyl-CoA isomerase; methylmalonyl-CoA mutase; methylmalonyl-CoA mutase, mitochondrial; methylmalonyl-Coenzyme A mutase; MMUT; MUT; mutant methylmalonyl CoA mutase; truncated methylmalonyl CoA mutase