Gene: GALNT12

Alternate names for this Gene: CRCS1|GalNAc-T12

Gene Summary: This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.33

Description of this Gene: polypeptide N-acetylgalactosaminyltransferase 12

Type of Gene: protein-coding

rs145236923 in GALNT12 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 24115450 2014 GALNT12 is not a major contributor of familial colorectal cancer type X.

PMID 19617566 2009 Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.

PMID 22461326 2012 Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.

rs2295924 in GALNT12 gene and Non-obstructive azoospermia PMID 22197933 2011 A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.