Entity Details

Primary name C1GALT1C1
Entity type gene
Source Source Link

Details

PrimaryID29071
RefseqGeneNG_016219
SymbolC1GALT1C1
NameC1GALT1 specific chaperone 1
ChromosomeX
LocationXq24
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-02-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsC1GLC_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0006493 protein O-linked glycosylation
GO:0016021 integral component of membrane
GO:0016263 glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity
GO:0016266 O-glycan processing
GO:0016267 O-glycan processing, core 1
GO:0030168 platelet activation
GO:0036344 platelet morphogenesis
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
300622 OMIMTn polyagglutination syndrome (TNPS)A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The disease is caused by variants affecting the gene represented in this entry.