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Gene Review

C1GALT1  -  core 1 synthase, glycoprotein-N...

Homo sapiens

Synonyms: B3Gal-T8, Beta-1,3-galactosyltransferase, C1GALT, C1GalT1, Core 1 O-glycan T-synthase, ...
 
 
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Disease relevance of C1GALT1

  • Correlation analysis was performed between C1GALT1/Cosmc expression levels and clinical manifestations (severe proteinuria, renal dysfunction, gross haematuria) [1].
 

High impact information on C1GALT1

  • A putative C. elegans gene for T-synthase, C38H2.2, was identified in GenBank by a BlastP search using the human T-synthase protein sequence [2].
  • The common O-glycan core structure in animal glycoproteins is the core 1 disaccharide Galbeta1-3GalNAcalpha1-Ser/Thr, which is generated by the addition of Gal to GalNAcalpha1-Ser/Thr by core 1 UDP-alpha-galactose (UDP-Gal):GalNAcalpha1-Ser/Thr beta1,3-galactosyltransferase (core 1 beta3-Gal-T or T-synthase, EC2.4.1.122) [2].
  • B-lymphocyte Cosmc gene expression level was significantly lower in IgAN patients than that of normal control and non-IgAN patients (P<0.05), whilst no apparent disparity was observed in C1GALT1 expression level [1].
  • This truncated antigen has the sugar N-acetylgalactosamine alpha-linked to either a serine or threonine amino-acid residue, whereas the correct T antigen has an additional terminal galactose; the defect may be due to a malfunction of the glycosylating enzyme T-synthase [3].
 

Biological context of C1GALT1

  • The current study was carried out to elucidate the expression level of beta1,3GT (C1GALT1) and its chaperone (Cosmc) in IgAN, and their relationships with clinical features as well as IgA glycosylation level [1].
  • Here we show that Tn syndrome is associated with a somatic mutation in Cosmc, a gene on the X chromosome that encodes a molecular 'chaperone' that is required for the proper folding and hence full activity of T-synthase [3].
 

Analytical, diagnostic and therapeutic context of C1GALT1

References

  1. Peripheral B lymphocyte beta1,3-galactosyltransferase and chaperone expression in immunoglobulin A nephropathy. Qin, W., Zhou, Q., Yang, L.C., Li, Z., Su, B.H., Luo, H., Fan, J.M. J. Intern. Med. (2005) [Pubmed]
  2. Identification of core 1 O-glycan T-synthase from Caenorhabditis elegans. Ju, T., Zheng, Q., Cummings, R.D. Glycobiology (2006) [Pubmed]
  3. Protein glycosylation: chaperone mutation in Tn syndrome. Ju, T., Cummings, R.D. Nature (2005) [Pubmed]
 
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