CACNA1A

calcium voltage-gated channel subunit alpha1 A

Ensembl:
ENSG00000141837
UniProt:
O00555
OMIM:
601011
Synonyms:
APCA, CACNL1A4, CAV2.1, EA2, FHM

Cilia effects upon perturbation of CACNA1A

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
Familial paroxysmal ataxia; episodic ataxia type 2; spinocerebellar ataxia type 6

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the CACNA1A gene cause Spinocerebellar Ataxia (PMID: 19817876).