Preferred Label : ATP1A2 wt Allele;
NCIt synonyms : ATPase Na /K Transporting Subunit Alpha 2 wt Allele; Na , K Activated Adenosine Triphosphatase Alpha Subunit 2 Gene; Na /K ATPase, Alpha-B Polypeptide Gene; Na /K ATPase, Alpha-A( ) Catalytic Polypeptide Gene; Migraine, Hemiplegic 2 Gene; MHP2; Na,K-ATPase, Alpha-A( ) Catalytic Polypeptide Gene; Sodium/Potassium-Transporting ATPase Alpha-2 Chain Gene; DEE98; FHM2; ATPase Na /K Transporting Alpha 2 Polypeptide Gene; ATPase, Na /K Transporting, Alpha 2 Polypeptide Gene; FARIMPD; ATPase, Na /K Transporting, Alpha-2 Polypeptide Gene; Na,K-ATPase, ALPHA-B Polypeptide Gene; Sodium-Potassium-ATPase, Alpha-2 Polypeptide Gene; Sodium-Potassium ATPase Catalytic Subunit Alpha-2 Gene; ATPase, Na /K Transporting, Alpha 2 ( ) Polypeptide Gene; KIAA0778;
NCIt 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.;
GenBank Accession Number : AB018321;
Origin ID : C218428;
OMIM relation
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
