GALNT3

Chr 2AR

polypeptide N-acetylgalactosaminyltransferase 3

Also known as: GalNAc-T3, HFTC, HFTC1, HHS

NCBI Gene: 2591 ENSG00000115339 UniProt: Q14435 OMIM: 601756

UDP-GalNAc transferase 3 catalyzes the initial step in O-linked oligosaccharide biosynthesis by transferring N-acetyl-D-galactosamine to serine or threonine residues on protein substrates, including glycosylation of FGF23. Biallelic mutations cause hyperphosphatemic familial tumoral calcinosis type 1, inherited in an autosomal recessive pattern. This gene is not highly constrained against loss-of-function variants.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Tumoral calcinosis, hyperphosphatemic, familial, 1MIM #211900

Clinical highlights

Gene-disease validity (ClinGen)

tumoral calcinosis, hyperphosphatemic, familial, 1 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.86

LOEUF

LOF

Mechanism· G2P

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GeneReview available — GALNT3