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Symbol CACNA1A contributors: mct - updated : 07-12-2021
HGNC name calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
HGNC id 1388
corresponding disease(s) EA2 , MHP1 , SCA6 , BPTI , EIEE42
  • to idiopathic generalized epilepsy
  • to epileptic encephalopathies (EEs)
  • Variant & Polymorphism SNP , other
  • deletions that include CACNA1A and a single truncating mutation have been associated with EE
  • Candidate gene
    Therapy target
    lysosomal accumulation and storage of mutant SCA6 within Purkinje cells is associated with toxicity, therefore decreasing the mutant load either by activating the autophagic response or by lysosomal exocytosis may be an effective therapeutic strategy for
  • Cacna1a mutated in tg and tg(la) mice leads to selective degeneration of cerebellar neurons
  • Cacna1a deficient mice develop a rapidly progressive neurological deficit with specific characteristics of ataxia and dystonia before dying approximately 3-4 weeks after birth
  • knockin mouse model carrying the human pure FHM-1 R192Q mutation display ncreased Ca(v)2.1 current density in cerebellar neurons, enhanced neurotransmission at the neuromuscular junction, anda reduced threshold and increased velocity of cortical spreading depression
  • mice lacking P/Q-type calcium channels (Cav2.1) have no cortical gamma-band-dependent columnar activation involving cortical inhibitory interneuron activity
  • mice expressing hyperexpanded polyglutamine (Sca6(84Q))
  • developed progressive motor impairment and aggregation of mutant Ca(V)2.1 channels
  • mice with R192Q mutation in Cacna1 gene show a more than twofold enhanced adjustment of behavioral wheel-running activity and electroencephalographic patterns, and enhanced shifts of electrical activity of suprachiasmatic nucleus neurons in vivo
  • female S218L and R192Q Cacna1a mutant mice are more susceptible to spreading depression and neurological deficits than males
  • Cacna1a(S218L) mice display an exquisite sensitivity to cortical spreading depression (CSD), with a vastly reduced triggering threshold, an increased propagation velocity, and frequently multiple CSD events after a single stimulus
  • MPI-118Q KI mice faithfully recapitulated the key phenotypic features of SCA6 and revealed a lysosomal contribution to SCA6 pathogenesis