B4GALNT3

Chr 12

beta-1,4-N-acetyl-galactosaminyltransferase 3

NCBI Gene: 283358 ENSG00000139044 UniProt: Q6L9W6 OMIM: 612220

This glycosyltransferase transfers N-acetylgalactosamine to glucosyl residues to form N,N'-diacetyllactosediamine structures on cell surface N-glycans and O-linked glycans. Biallelic mutations cause spastic tetraplegia with thin corpus callosum and progressive microcephaly, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.78

LOEUF

Mechanism· predicted