CACNA2D1

CACNA2D1 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1) is a Protein Coding gene. Diseases associated with CACNA2D1 include Familial Short Qt Syndrome and Short Qt Syndrome. Among its related pathways are Cardiac conduction and NFAT and Cardiac Hypertrophy. Gene Ontology (GO) annotations related to this gene include voltage-gated calcium channel activity and calcium channel regulator activity. An important paralog of this gene is CACNA2D2.

Full Name

CALCIUM VOLTAGE-GATED CHANNEL AUXILIARY SUBUNIT ALPHA2DELTA 1

Function

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity).

Biological Process

Calcium ion import across plasma membrane Source: BHF-UCL
Calcium ion transmembrane transport via high voltage-gated calcium channel Source: BHF-UCL
Calcium ion transport Source: UniProtKB
Calcium ion transport into cytosol Source: BHF-UCL
Cardiac muscle cell action potential involved in contraction Source: BHF-UCL
Cellular response to amyloid-beta Source: ARUK-UCL
Membrane depolarization during bundle of His cell action potential Source: BHF-UCL
Positive regulation of high voltage-gated calcium channel activity Source: BHF-UCL
Regulation of calcium ion transmembrane transport via high voltage-gated calcium channel Source: ARUK-UCL
Regulation of calcium ion transport Source: BHF-UCL
Regulation of heart rate by cardiac conduction Source: BHF-UCL
Regulation of membrane repolarization during action potential Source: BHF-UCL
Regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL

Cellular Location

Membrane

Topology

Extracellular: 25-1073 aa
Helical: 1074-1094 aa
Cytoplasmic: 1095-1103 aa

PTM

Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked.