ATP1A3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ATP1A3 wild-type allele is located in the vicinity of 19q13.2 and is approximately 31 kb in length. This allele, which encodes sodium/potassium-transporting ATPase subunit alpha-3 protein, plays a role in the exchange of sodium and potassium ions across the plasma membrane of neurons, resulting in a electrochemical gradient that promotes nutrient transport. Mutation of the gene is associated with alternating hemiplegia of childhood 2, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome and dystonia type 12.

**Synonyms:** - AHC2 - ATP1A1 - ATPase Na+/K+ Transporting Subunit Alpha 3 wt Allele - ATPase, Na(+)/K(+), Alpha III Gene - ATPase, Na+/K+ Transporting, Alpha 3 Polypeptide Gene - ATPase, Na+/K+ Transporting, Alpha-3 Polypeptide Gene - CAPOS - DYT12 - Dystonia 12 Gene - Na+, K+ Activated Adenosine Triphosphatase Alpha Subunit 3 Gene - Na+, K+ Activated Adenosine Triphosphatase Alpha Subunit Gene - Na+/K+ ATPase 3 Gene - RDP - Sodium-Potassium-ATPase, Alpha 3 Polypeptide Gene - Sodium-Potassium-ATPase, Alpha-3 Polypeptide Gene