ATP7B wt Allele

Preferred Label : ATP7B wt Allele;

NCIt synonyms : WD; WND; ATPase, Cu Transporting, Beta Polypeptide (Wilson Disease) Gene; ATPase, Cu Transporting, Beta Polypeptide Gene; ATPase Copper Transporting Beta wt Allele; PWD; Wilson Disease Gene; WC1; ATPase, Cu(2 )-Transporting, Beta Polypeptide Gene;

NCIt definition : Human ATP7B wild-type allele is located in the vicinity of 13q14.3 and is approximately 82 kb in length. This allele, which encodes copper-transporting ATPase 2 protein, is involved in copper ion homeostasis. Mutation of the gene is associated with Wilson disease.;

NCI Metathesaurus CUI : CL1643022;

GenBank Accession Number : U11700;

Details

Origin ID

C177193;

UMLS CUI

C5443958;

Automatic exact mappings (from CISMeF team)
- Atpase, cu(2+)-transporting, beta polypeptide [OMIM gene]
- Blood group--waldner type [OMIM Phenotype]
- Wilson disease [ORDO Disease]
- Wilson disease [OMIM Phenotype]
- Working diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- electronic health records [MeSH Descriptor]
- hepatolenticular degeneration [MeSH Descriptor]
- phosphoglucan, water dikinase activity [GO term]
- preimplantation diagnosis [MeSH Descriptor]
OMIM relation
- Atpase, cu(2+)-transporting, beta polypeptide [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 13q14.3 [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]

Keyword's position in hierarchy(ies) :

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