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機能
Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).
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組織特異性
Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.
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関連疾患
Defects in C1GALT1C1 are the cause of Tn syndrome (TNSYN) [MIM:300622]. Tn syndrome is a rare autoimmune disease caused by somatic mutation in the C1GALT1C1 gene in which subpopulations of blood cells of all lineages carry an incompletely glycosylated membrane glycoprotein, i.e. the Tn antigen. Since leukocytes and platelets are affected as well as red cells, anemia, leukopenia and thrombocytopenia are features. Tn-polyagglutinability is sometimes associated with leukemia or is a preleukemic state.
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配列類似性
Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.
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細胞内局在
Membrane.
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Information by UniProt
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参照データベース
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別名
- HSPC067 antibody
- 3-galactosyltransferase 2 antibody
- Beta 1,3 galactosyltransferase 2 antibody
- Beta1,3 galactosyltransferase 2 antibody
- C1Gal T2 antibody
- C1Gal-T2 antibody
- C1GALT1 specific chaperone 1 antibody
- C1GALT1-specific chaperone 1 antibody
- C1galt1c1 antibody
- C1GalT2 antibody
- C1GLC_HUMAN antibody
- C38H2 L1 antibody
- C38H2 like protein 1 antibody
- C38H2-L1 antibody
- C38H2-like protein 1 antibody
- C38H2L1 antibody
- Core 1 beta1 antibody
- Core 1 beta3 galactosyltransferase specific molecular chaperone antibody
- Core 1 beta3-Gal-T2 antibody
- Core 1 beta3-galactosyltransferase-specific molecular chaperone antibody
- Core 1 UDP galactose:N acetylgalactosamine alpha R beta 1,3 galactosyltransferase 2 antibody
- COSMC antibody
- MGC19947 antibody
- MST143 antibody
see all