ATP1A3 wt Allele

Preferred Label : ATP1A3 wt Allele;

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

NCIt 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.;

NCI Metathesaurus CUI : CL1664908;

GenBank Accession Number : NM_152296;

Details

Origin ID

C181980;

UMLS CUI

C5551130;

Automatic exact mappings (from CISMeF team)
- ATPase Na+/K+ transporting subunit alpha 1 [ORDO Gene]
- Alternating hemiplegia of childhood 2 [OMIM Phenotype]
- Atpase, na+/k+ transporting, alpha-1 polypeptide [OMIM gene]
- CAPOS syndrome [MeSH Supplementary Concept]
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss [OMIM Phenotype]
- Dipeptidase 1 [OMIM gene]
- Dystonia 12 [OMIM Phenotype]
- Rapid-onset dystonia-parkinsonism [ORDO Disease]
- dystonia 12 [MeSH Supplementary Concept]
OMIM relation
- Atpase, na+/k+ transporting, alpha-3 polypeptide [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.2 [NCIt concept]
gene_is_element_in_pathway
- Aldosterone-Regulated Sodium Reabsorption Pathway [NCIt concept]
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Gastric Acid Secretion Pathway [NCIt concept]
- Proximal Tubule Bicarbonate Reclamation Pathway [NCIt concept]
- Salivary Secretion Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transport Process [NCIt concept]

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