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Immunogen sequence: PFSIQLYPNE FPGSDPRDCP RDLPKNAALK LGCINAEYPD SFGHYREAKF SQTKHHWWWK LHFVWERVKI LRDYAGLILF LEEDHYLAPD FYHVFKKMWK LKQQECPECD VLSLGTYSAS RSFYGMADKV DVKTWKSTEH NMGLALTRNA YQKLIECTDT FCTYDDYNWD WTLQYLTVSC LPKFWKVLVP QIPRIFHAGD CGMHHKKTCR PSTQSAQIES LLNNNKQYMF PETLTISEKF TVVAISPPRK NGGWGDIRDH ELCKSYRRLQ; Positive Samples: K-562, Mouse kidney, Rat kidney; Cellular Location: Golgi apparatus membrane, Single-pass type II membrane protein
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase; Beta-1,2-N-acetylglucosaminyltransferase II; beta-12-N-acetylglucosaminyltransferase II; GlcNAc-T II; GNT-II; Mannoside acetylglucosaminyltransferase 2; N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase II; UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II
基因别名: AA407964; CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2; MGAT2
UniProt ID: (Human) Q10469, (Mouse) Q921V5, (Rat) Q09326
Entrez Gene ID: (Human) 4247, (Mouse) 217664, (Rat) 94273
分子生物学功能: glycosyltransferase