CACNB1

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.

The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified.

Mutations in CACNB1 are known to cause the following conditions: Malignant Hyperthermia; Congenital Myopathy; Alzheimer's Disease; Autism Spectrum Disorder.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.