GALNT7

Chr 4

polypeptide N-acetylgalactosaminyltransferase 7

Also known as: GALNAC-T7, GalNAcT7

NCBI Gene: 51809 ENSG00000109586 UniProt: Q86SF2

GalNAc transferase 7 catalyzes the transfer of N-acetyl-D-galactosamine residues to already glycosylated peptides during O-linked oligosaccharide biosynthesis, functioning as a follow-up enzyme that adds additional GalNAc moieties rather than initiating glycosylation. Mutations in this highly constrained gene (pLI near 1.0) cause autosomal recessive intellectual disability with seizures and hypotonia. The gene shows strong selective pressure against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.64

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)