CACNB4

Voltage-dependent L-type calcium channel subunit beta-4 is a is_associated_with::protein that in humans is encoded by the CACNB4 is_associated_with::gene.

Function
This gene encodes a member of the beta subunit family, a protein in the voltage-dependent is_associated_with::calcium channel complex. 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 is_associated_with::alternative splicing. The protein described in this record plays an important role in calcium channel function by modulating is_associated_with::G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized.

Clinical significance
Certain mutations in this gene have been associated with is_associated_with::idiopathic generalized epilepsy (IGE) and is_associated_with::juvenile myoclonic epilepsy (JME).

Interactions
CACNB4 has been shown to interact with is_associated_with::Cav2.1.