CACNB4

This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function 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. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Description

calcium channel, voltage-dependent, beta 4 subunit

Protein family

SH3-domain containing proteins, Transporters

Chromosome

2:q23.3 (152689290 - 152955593)

Ensembl ID

ENSG00000182389  (ver. 69.37)

Orthologs

Mouse Cacnb4: ENSMUSG00000017412

Human splice variants
Mouse splice variants