PLXNB3

Chr X

plexin B3

Also known as: PLEXB3, PLEXR, PLXN6

NCBI Gene: 5365 ENSG00000198753 UniProt: Q9ULL4 OMIM: 300214

The protein functions as a receptor for semaphorin 5A and regulates axon guidance, neurite outgrowth, and cell migration through effects on the actin cytoskeleton and focal adhesions. Mutations cause autosomal recessive intellectual disability with seizures and axonal neuropathy, affecting the central and peripheral nervous systems. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

OMIM 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

0.37

LOEUF

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Mechanism