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Hum Genomics. 2013 Apr 5;7:8. doi: 10.1186/1479-7364-7-8.

Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models.

Author information

1
Department of Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA. Stephanie.Gritz@ucdenver.edu

Abstract

Na(+)/K(+)-ATPase alpha 2 (Atp1a2) is an integral plasma membrane protein belonging to the P-type ATPase family that is responsible for maintaining the sodium (Na(+)) and potassium (K(+)) gradients across cellular membranes with hydrolysis of ATP. Atp1a2 contains two subunits, alpha and beta, with each having various isoforms and differential tissue distribution. In humans, mutations in ATP1A2 are associated with a rare form of hereditary migraines with aura known as familial hemiplegic migraine type II. Genetic studies in mice have revealed other neurological effects of Atp1a2 in mice including anxiety, fear, and learning and motor function disorders. This paper reviews the recent findings in the literature concerning Atp1a2.

PMID:
23561701
PMCID:
PMC3639839
DOI:
10.1186/1479-7364-7-8
[Indexed for MEDLINE]
Free PMC Article
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