B3GNT7

Chr 2

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7

Also known as: beta3GnT7

NCBI Gene: 93010 ENSG00000156966 UniProt: Q8NFL0

The protein is a N-acetylglucosaminyltransferase that catalyzes the transfer of GlcNAc to galactose residues in keratan sulfate proteoglycans, playing a critical role in corneal keratan sulfate biosynthesis and corneal transparency. Mutations cause autosomal recessive corneal dystrophy with stromal clouding and vision impairment. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.495), indicating intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. Involved in keratan sulfate proteoglycan biosynthetic process. Predicted to be located in membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.49

LOEUF

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Mechanism

Some data sources returned errors (1)

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