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Gene : CACNA1C Homo sapiens

Name  ? calcium voltage-gated channel subunit alpha1 C Cytological Location  12p13.33
Brief Description  calcium voltage-gated channel subunit alpha1 C
Description  This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
  • synonyms:
  • HGNC:1390,
  • CACN2,
  • NM_000719,
  • Cav1.2,
  • uc001qkl.3,
  • AF070589,
  • CACNL1A1,
  • LQT8,
  • CACH2,
  • LQT8,
  • TS. LQT8,
  • CACNA1C,
  • CaV1.2,
  • CCHL1A1,
  • TS,
  • OTTHUMG00000150243,
  • CCHL1A1,
  • CACN2,
  • TS,
  • CACNL1A1,
  • calcium channel, voltage-dependent, L type, alpha 1C subunit,
  • CACH2
  • identifiers:
  • 775,
  • ENSG00000151067,
  • CACNA1C

Genome feature

Region: gene ? Length: 728399  
Location: 12:1969552-2697950 Cyto location: 12p13.33


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Disease

2 Diseases

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595 SN Ps

5 Cross References

20 Data Sets

12 Homologues

6 Located Features

97 Rna Seq Results