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ATP1A2 ATPase Na+/K+ transporting subunit alpha 2

Gene ID: 477, updated on 5-May-2024
Gene type: protein coding
Also known as: FHM2; MHP2; DEE98; FARIMPD


The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]

Associated conditions

See all available tests in GTR for this gene

Alternating hemiplegia of childhood 1
MedGen: C3549447OMIM: 104290GeneReviews: Not available
See labs
Developmental and epileptic encephalopathy 98
MedGen: C5562017OMIM: 619605GeneReviews: Not available
See labs
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
MedGen: C5562015OMIM: 619602GeneReviews: Not available
See labs
Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment.
GeneReviews: Not available
Migraine, familial hemiplegic, 2See labs

Genomic context

Chromosome: 1; NC_000001.11 (160115759..160143591)
Total number of exons:


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