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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
  • 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