ATP1A1 wt Allele

Preferred Label : ATP1A1 wt Allele;

NCIt synonyms : RP4-655J12.1; ATPase, Na /K Transporting, Alpha-1 Polypeptide Gene; CMT2DD; ATPase, Na /K Transporting, Alpha 1 Polypeptide Gene; ATPase Na /K Transporting Subunit Alpha 1 wt Allele;

NCIt definition : Human ATP1A1 wild-type allele is located in the vicinity of 1p21 and is approximately 38 kb in length. This allele, which encodes sodium/potassium-transporting ATPase subunit alpha-1 protein, plays a role in both ATP metabolism and cation transport.;

GenBank Accession Number : D00099;

Détails

Origin ID

C113763;

UMLS CUI

C3814870;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD [ORDO Disease]
- Charcot-Marie-Tooth disease type 2DD [DO Concept]
- Charcot-marie-tooth disease, axonal, type 2dd [OMIM Phenotype]
OMIM relation
- Atpase, na+/k+ transporting, alpha-1 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
- 1p21 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Aldosterone-Producing Adrenal Cortical Adenoma [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]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients