ATP1A2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ATP1A2 wild-type allele is located in the vicinity of 1q23.2 and is approximately 28 kb in length. This allele, which encodes sodium/potassium-transporting ATPase subunit alpha-2 protein, is involved in ATP-dependent exchange of sodium and potassium across the plasma membrane. Mutations in the gene are associated with alternating hemiplegia of childhood 1, developmental and epileptic encephalopathy 98, fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (FARIMPD) and familial migraine basilar type and hemiplegic type 2.

**Synonyms:** - ATPase Na+/K+ Transporting Alpha 2 Polypeptide Gene - ATPase Na+/K+ Transporting Subunit Alpha 2 wt Allele - ATPase, Na+/K+ Transporting, Alpha 2 (+) Polypeptide Gene - ATPase, Na+/K+ Transporting, Alpha 2 Polypeptide Gene - ATPase, Na+/K+ Transporting, Alpha-2 Polypeptide Gene - DEE98 - FARIMPD - FHM2 - KIAA0778 - MHP2 - Migraine, Hemiplegic 2 Gene - Na+, K+ Activated Adenosine Triphosphatase Alpha Subunit 2 Gene - Na+/K+ ATPase, Alpha-A(+) Catalytic Polypeptide Gene - Na+/K+ ATPase, Alpha-B Polypeptide Gene - Na,K-ATPase, ALPHA-B Polypeptide Gene - Na,K-ATPase, Alpha-A(+) Catalytic Polypeptide Gene - Sodium-Potassium ATPase Catalytic Subunit Alpha-2 Gene - Sodium-Potassium-ATPase, Alpha-2 Polypeptide Gene - Sodium/Potassium-Transporting ATPase Alpha-2 Chain Gene