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Sequence of this protein is as follows: MLSESSSFLK GVMLGSIFCA LITMLGHIRI GHGNRMHHHE HHHLQAPNKE DILKISEDER MELSKSFRVY CIILVKPKDV SLWAAVKETW TKHCDKAEFF SSENVKVFES INMDTNDMWL MMRKAYKYAF DKYRDQYNWF FLARPTTFAI IENLKYFLLK KDPSQPFYLG HTIKSGDLEY VGMEGGIVLS VESMKRLNSL LNIPEKCPEQ GGMIWKISED KQLAVCLKYA GVFAENAEDA DGKDVFNTKS VGLSIKEAMT YHPNQVVEGC CSDMAVTFNG LTPNQMHVMM YGVYRLRAFG HIFNDALVFL PPNGSDND
This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified.
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: beta 1,3-galactosyltransferase 2; C1Gal-T2; C1GALT1-specific chaperone 1; C38H2-L1; C38H2-like protein 1; Core 1 beta1,3-galactosyltransferase 2; core 1 beta3-Gal-T2; Core 1 beta3-galactosyltransferase-specific molecular chaperone
基因别名: C1GALT1C1; C1GALT2; C38H2-L1; COSMC; HSPC067; MST143; MSTP143; TNPS; UNQ273/PRO310
UniProt ID: (Human) Q96EU7
Entrez Gene ID: (Human) 29071