ATP5F1E wt Allele

Preferred Label : ATP5F1E wt Allele;

NCIt synonyms : ATPE; MC5DN3; ATP Synthase F1 Subunit Epsilon wt Allele; ATP Synthase, H Transporting, Mitochondrial F1 Complex, Epsilon Subunit Gene; ATP5E;

NCIt related terms : ATP5E wt Allele;

NCIt definition : Human ATP5F1E wild-type allele is located in the vicinity of 20q13.32 and is approximately 7 kb in length. This allele, which encodes ATP synthase subunit epsilon, mitochondrial protein, plays a role in ATP biosynthesis. Mutation of the gene is associated with mitochondrial complex V (ATP synthase) deficiency nuclear type 3.;

GenBank Accession Number : AF077045;

Details

Origin ID

C105836;

UMLS CUI

C3812228;

Automatic exact mappings (from CISMeF team)
- Atp synthase f1, subunit epsilon [OMIM gene]
- Atp synthase peripheral stalk, subunit f6 [OMIM gene]
- Distal membrane arm assembly complex 2-like protein [OMIM gene]
- Mitochondrial complex V (atp synthase) deficiency, nuclear type 3 [OMIM Phenotype]
- mitochondrial complex V (ATP synthase) deficiency nuclear type 3 [DO Concept]
OMIM relation
- Atp synthase f1, subunit epsilon [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
- 20q13.32 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Oxidative Phosphorylation Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cell Respiration [NCIt concept]
- Nucleotide Biosynthesis Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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