GALNT17

Chr 7

polypeptide N-acetylgalactosaminyltransferase 17

Also known as: GALNACT17, GALNT20, GALNTL3, GalNAc-T17, GalNAc-T19, GalNAc-T5L, WBSCR17

NCBI Gene: 64409 ENSG00000185274 UniProt: Q49A17 OMIM: 615137

This gene encodes an N-acetylgalactosaminyltransferase that catalyzes the initial step in O-linked oligosaccharide biosynthesis by transferring N-acetyl-D-galactosamine to serine or threonine residues on protein receptors. The gene is highly constrained against loss-of-function variants and is located near the Williams-Beuren syndrome deletion region at 7q11.23, but specific disease associations with GALNT17 mutations have not been established. The protein may contribute to membrane trafficking processes.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.49

LOEUF

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Mechanism