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Immunogen sequence: DQTLRNVDK AGTWAPRELV LVVQVHNRPE YLRLLLDSLR KAQGIDNVLV IFSHDFWSTE INQLIAGVNF CPVLQVFFPF SIQLYPNEFP GSDPRDCPRD LPKNAALKLG CINAEYPDSF GHYREAKFSQ TKHHWWWKLH FVWERVKILR DYAGLILFLE EDHYLAPDFY HVFKKMWKLK QQECPECDVL SLGTYSASRS FYGMADKVDV KTWKSTEHNM GLALTRNAYQ KLIECTDTFC TYDDYNWDWT LQYLTVSCLP KFWKVLVPQI PRIFHAGDCG MHHKKTCRPS TQSAQIESLL NNNKQYMFPE TLTISEKFTV VAISPPRKNG GWGDIRDHEL CKSYRRLQ (101-447 aa encoded by BC006390)
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: Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase; Beta-1,2-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
Gene Aliases: AA407964; CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2; MGAT2
UniProt ID: (Human) Q10469, (Mouse) Q921V5
Entrez Gene ID: (Human) 4247, (Mouse) 217664
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