C1GALT1C1 Chromosome X
C1GALT1 specific chaperone 1
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What This Gene Does
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. [provided by RefSeq, Dec 2009]
Associated Conditions (8)
Polyagglutinable erythrocyte syndrome
C1GALT1C1-related disorder
Hemolytic uremic syndrome
atypical
8
with rhizomelic short stature
Abnormal protein O-linked glycosylation
Atypical hemolytic-uremic syndrome
Key Variants
RS17261572
Conflicting classifications of pathogenicity
Polyagglutinable erythrocyte syndrome, C1GALT1C1-related disorder, Hemolytic uremic syndrome
Health Risk
RS2521331868
Likely pathogenic
Abnormal protein O-linked glycosylation, Hemolytic uremic syndrome, atypical
Health Risk
RS137853598
Pathogenic
Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome
Health Risk
RS137853599
Pathogenic
Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome
Health Risk
RS2521331057
Pathogenic
Atypical hemolytic-uremic syndrome, Hemolytic uremic syndrome, atypical
Health Risk
RS397514537
Pathogenic
Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome
Health Risk
RS587776928
Pathogenic
Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome
Health Risk
RS778819609
Pathogenic
Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS17261572 | Health Risk | Conflicting classifications of pathogenicity | Polyagglutinable erythrocyte syndrome, C1GALT1C1-related disorder, Hemolytic uremic syndrome |
| RS2521331868 | Health Risk | Likely pathogenic | Abnormal protein O-linked glycosylation, Hemolytic uremic syndrome, atypical |
| RS137853598 | Health Risk | Pathogenic | Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome |
| RS137853599 | Health Risk | Pathogenic | Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome |
| RS2521331057 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome, Hemolytic uremic syndrome, atypical |
| RS397514537 | Health Risk | Pathogenic | Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome |
| RS587776928 | Health Risk | Pathogenic | Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome |
| RS778819609 | Health Risk | Pathogenic | Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome |