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Immunogen sequence: SARIARNTQ IIIQEESGIP KVADPWGGSY MMECLTNDVY DAALKLINEI EEMGGMAKAV AEGIPKLRIE ECAARRQARI DSGSEVIVGV NKYQLEKEDT VEVLAIDNTS VRNRQIEKLK KIKSSRDQAL AERCLAALTE CAASGDGNIL ALAVDASRAR CTVGEITDAL KKVFGEHKAN DRMVSGAYRQ EFGESKEITS AIKRVHKFME REGRRPRLLV AKMGQDGHDR GAKVIATGFA DLGFDVDIGP LFQTPREVAQ QAVDADVHAV GVSTLAAGHK TLVPELIKEL NSLGRPDILV MCGGVIPPQD YEFLFEVGVS NVFGPGTRIP KAAVQVLDDI EKCLEKKQQS V (401-750 aa encoded by BC016282)
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.
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Protein Aliases: MCM; methylmalonyl CoA mutase; methylmalonyl Coenzyme A mutase; Methylmalonyl-CoA isomerase; Methylmalonyl-CoA mutase, mitochondrial; methylmalonyl-Coenzyme A mutase; mutant methylmalonyl CoA mutase; truncated methylmalonyl CoA mutase
Gene Aliases: D230010K02Rik; MCM; MMUT; MUT
Molecular Function: mutase