CACNA2D1
Domain
The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch.
Function
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role in excitation-contraction coupling (By similarity).
Involvement in disease
Developmental and epileptic encephalopathy 110
DEE110
A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Proteolytically processed into subunits alpha-2-1 and delta-1 that are disulfide-linked.
Sequence Similarities
Belongs to the calcium channel subunit alpha-2/delta family.
Tissue Specificity
Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta.
Cellular localization
- Membrane
- Single-pass type I membrane protein
- Cell membrane
Alternative names
CACNL2A, CCHL2A, MHS3, CACNA2D1, Voltage-dependent calcium channel subunit alpha-2/delta-1, Voltage-gated calcium channel subunit alpha-2/delta-1
Database links
swissprot:P54289 entrezGene:781 swissprot:Q9UIU0 swissprot:Q17R45 omim:114204