CACNA2D1
Description
The CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1) is a protein-coding gene located on chromosome 7.
The CACNA2D1 gene encodes a protein called Voltage-dependent calcium channel subunit alpha-2/delta-1. This protein is part of a larger complex called the voltage-dependent calcium channel, which controls the flow of calcium ions into cells. The complex is made up of four subunits: alpha-1, alpha-2/delta, beta, and gamma, all in equal amounts. Research on similar proteins in rabbits suggests that this protein is cleaved into two parts: alpha-2 and delta. Different versions of this gene have been observed, but they haven't been fully characterized yet. Gabapentin and pregabalin, drugs used to treat epilepsy and nerve pain, are believed to target this protein.
CACNA2D1 is also known as CACNA2, CACNL2A, CCHL2A, DEE110, LINC01112, lncRNA-N3.
Associated Diseases
- Familial short QT syndrome
- Brugada syndrome
- Developmental and epileptic encephalopathy 110
- Non-specific early-onset epileptic encephalopathy
