B3GAT1

Chr 11

beta-1,3-glucuronyltransferase 1

Also known as: CD57, GLCATP, GLCUATP, HNK1, LEU7, NK-1, NK1

NCBI Gene: 27087 ENSG00000109956 UniProt: Q9P2W7 OMIM: 151290

The B3GAT1 protein functions as a glucuronyltransferase that catalyzes the biosynthesis of the HNK-1 carbohydrate epitope on glycoproteins and participates in glycosaminoglycan biosynthesis. Mutations cause autosomal recessive multiple congenital anomalies-hypotonia-seizures syndrome, characterized by early-onset developmental delays, hypotonia, seizures, and distinctive facial features. The gene shows moderate constraint against loss-of-function variants, consistent with its role in essential carbohydrate modification pathways.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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