ATP7A wt Allele

Preferred Label : ATP7A wt Allele;

NCIt synonyms : FLJ17790; SMAX3; MNK; MK; ATPase, Cu Transporting, Alpha Polypeptide (Menkes Syndrome) Gene; RP3-465G10.1; DSMAX; Menkes Syndrome Gene; ATPase, Cu(2 )-Transporting, Alpha Polypeptide Gene; MC1; ATPase, Cu Transporting, Alpha Polypeptide wt Allele;

NCIt definition : Human ATP7A wild-type allele is located within Xq13.2-q13.3 and is approximately 139 kb in length. This allele, which encodes copper-transporting ATPase 1 protein, plays a role in the localization of copper ions. Mutations in the gene are associated with both Menkes disease and occipital horn syndrome.;

GenBank Accession Number : L06133;

Détails

Origin ID

C74974;

UMLS CUI

C2699122;

OMIM relation
- Atpase, cu(2+)-transporting, alpha 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_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

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