GALNT8

Chr 12

polypeptide N-acetylgalactosaminyltransferase 8

Also known as: GALNAC-T8

NCBI Gene: 26290 ENSG00000130035 UniProt: Q9NY28

The GALNT8 protein catalyzes the initial step of O-linked glycosylation by transferring N-acetyl-D-galactosamine to serine and threonine residues on target proteins in the Golgi apparatus. Mutations in GALNT8 cause autosomal recessive intellectual developmental disorder with cardiac arrhythmia, affecting neurological development and cardiac conduction. The gene shows tolerance to loss-of-function variants (low constraint), which is consistent with the recessive inheritance pattern observed in affected families.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.39

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429