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Gene : CACNA1A Homo sapiens

Name  ? calcium voltage-gated channel subunit alpha1 A Cytological Location  19p13.13
Brief Description  calcium voltage-gated channel subunit alpha1 A
Description  Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
  • synonyms:
  • BI,
  • CAV2.1,
  • CACNA1A,
  • uc002mwy.5,
  • FHM,
  • NM_000068,
  • CACNL1A4,
  • HPCA,
  • SCA6,
  • APCA,
  • SCA6,
  • MHP1,
  • APCA,
  • OTTHUMG00000044590,
  • MHP,
  • EIEE42,
  • CACNL1A4,
  • MHP1,
  • HPCA,
  • calcium channel, voltage-dependent, P/Q type, alpha 1A subunit,
  • U79666,
  • Cav2.1,
  • EA2,
  • FHM,
  • HGNC:1388,
  • MHP,
  • EA2
  • identifiers:
  • 773,
  • ENSG00000141837,
  • CACNA1A

Genome feature

Region: gene ? Length: 300038  
Location: 19:13206442-13506479 reverse strand Cyto location: 19p13.13


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Disease

4 Diseases

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331 SN Ps

5 Cross References

20 Data Sets

13 Homologues

0 Located Features

97 Rna Seq Results