C1GALT1

Chr 7

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Also known as: C1GALT, T-synthase

NCBI Gene: 56913 ENSG00000106392 UniProt: Q9NS00

The protein is a glycosyltransferase that generates the core 1 O-glycan structure (Gal-beta-1-3GalNAc-R), which serves as a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Mutations cause Tn syndrome, an autosomal recessive disorder characterized by chronic hemolytic anemia, thrombocytopenia, and leukopenia due to exposure of the Tn antigen on blood cells. The condition typically presents in infancy or early childhood and primarily affects the hematologic system.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]

ResearchGenerating clinical summary…

LOEUF 0.47

Clinical Summary— C1GALT1

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.76) — some intolerance to loss-of-function variants.

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