CACNB3

Chr 12

calcium voltage-gated channel auxiliary subunit beta 3

Also known as: CAB3, CACNLB3

NCBI Gene: 784 ENSG00000167535 UniProt: P54284 OMIM: 601958

This protein is a regulatory beta subunit of voltage-gated calcium channels that increases peak calcium currents and modulates channel activation and inactivation properties. Mutations cause autosomal recessive juvenile myoclonic epilepsy with onset in adolescence. The gene is highly constrained against loss-of-function variants (LOEUF 0.644), suggesting intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.64

LOEUF

Multiple*

Mechanism· predicted