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CASVDD

Chr 3AR

calcium voltage-gated channel auxiliary subunit alpha2delta 2

Also known as: CACNA2D, CASVDD

NCBI Gene: 9254 OMIM: 618501

This gene encodes the alpha-2/delta auxiliary subunit of voltage-dependent calcium channels, which functions in channel assembly, membrane localization, and modulation of calcium currents and activation kinetics. Mutations cause cerebellar atrophy with seizures and variable developmental delay, inherited in an autosomal recessive pattern. The associated phenotype involves early-onset seizures with cerebellar and developmental abnormalities.

OMIM ResearchSummary from RefSeq, OMIM

Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

OMIM ResearchGenerating clinical summary…