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GALNT12 polypeptide N-acetylgalactosaminyltransferase 12

Gene ID: 79695, updated on 20-Dec-2019
Also known as: CRCS1; GalNAc-T12

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.[provided by RefSeq, Mar 2011]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Colorectal cancer 1
MedGen: C1837315OMIM: 608812GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-09-09)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2019-09-09)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
9q22.33
Sequence:
Chromosome: 9; NC_000009.12 (98807670..98850081)
Total number of exons:
13

Links

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