Pain Research Forum

Progress through collaboration

CACNA1A

Gene Name:

P/Q-type voltage gated calcium channel, α1a subunit

Synonyms:

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; Cav2.1; CACNL1A4; MHP; EA2; MHP1; FHM; calcium channel, L type, alpha-1 polypeptide; SCA6

Chromosome:

19

Chromosomal Location:

13,317,256: 13,617,274

Entrez Gene ID:

OMIM ID:

UNIPROT ID:

Function:

P/Q-type calcium channel subunit

Phenotype/Disease:

migraine

Notes:

For a recent review, see: Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS. Rajakulendran S, Kaski D, Hanna MG Nat Rev Neurol. 2012 Jan 17.PMID: 22249839

Pain Data in Humans:

CACNA1A-v1

Variant Type:

autosomal dominant mutation

Variant ID:

various missense mutations

Phenotype/Disease:

familial hemiplegic migraine type II

OMIM Entry:

Reference(s):

Ophoff et al., 1996

Ducros et al., 1999

Carrera et al., 1999

Battistini et al., 1999

Vahedi et al., 2000

Ducros et al., 2001

Kors et al., 2001

Alonso et al., 2004

Beauvais et al., 2004

Kors et al., 2004

Spadaro et al., 2004

Thomsen et al., 2007

Romaniello et al., 2010

Stuart et al., 2012

CACNA1A-v2

Variant Type:

common polymorphisms

Variant ID:

E918D/E993V

Phenotype/Disease:

migraine (mixed sample)

Reference(s):

D'Onofrio et al., 2009

CACNA1A-v3

Variant Type:

autosomal dominant mutation

Variant ID:

various missense mutations

Phenotype/Disease:

sporadic hemiplegic migraine

CACNA1A-v4

Variant Type:

autosomal dominant mutation

Variant ID:

R583X

Phenotype/Disease:

basilar migraine

Reference(s):

Robbins et al., 2009