C1GALT1

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core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
Identifiers
SymbolC1GALT1
Chr. 7 p21.3
Search for
StructuresSwiss-model
DomainsInterPro

Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1, also known as C1GALT1, is an enzyme which in humans is encoded by the C1GALT1 gene.[1][2]

Function

The common core 1

O-glycan structure Gal-beta-1-3GalNAc-R is a precursor for many extended mucin-type O-glycan structures in animal cell surface and secreted glycoproteins. Core 1 is synthesized by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R by core 1 beta-3-galactosyltransferase (C1GALT1).[2]

C1GALT1 is associated with the

T-Tn antigen system.[3]

Clinical significance

There is some evidence that mutations in the C1GALT1 gene may be associated with kidney disease.[4]

See also

References

  1. PMID 10580128
    .
  2. ^
    PMID 11677243
    .
  3. ^ "BGMUT Blood Group Antigen Gene Mutation Database". Retrieved 2011-07-16.
  4. PMID 17062753
    .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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