CACNA1B
Description
The CACNA1B (calcium voltage-gated channel subunit alpha1 B) is a protein-coding gene located on chromosome 9.
The CACNA1B gene encodes the alpha-1B subunit of the N-type calcium channel (Cav2.2). This subunit, along with beta and alpha-2δ subunits, forms the complete N-type calcium channel. It is also considered an R-type calcium channel.
CACNA1B is also known as BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH.
Associated Diseases
- Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
- Non-specific early-onset epileptic encephalopathy
