FIGURE: 1 / 5
Immunogen sequence: SVSMTMNGAV IPVLANFIVT GEEQGVPKEK LTGTIQNDIL KEFMVRNTYI FPPEPSMKII ADIFEYTAKH MPKFNSISIS GYHMQEAGAD AILELAYTLA DGLEYSRTGL QAGLTIDEFA PRLSFFWGIG
Highest antigen sequence identity to the following orthologs: Mouse - 96%, Rat - 96%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: MCM; methylmalonyl CoA mutase; methylmalonyl Coenzyme A mutase; Methylmalonyl-CoA isomerase; Methylmalonyl-CoA mutase, mitochondrial; mutant methylmalonyl CoA mutase; truncated methylmalonyl CoA mutase
Gene Aliases: MCM; MMUT; MUT
UniProt ID: (Human) P22033
Entrez Gene ID: (Human) 4594
Molecular Function: mutase