SLC25A4 wt Allele

Preferred Label : SLC25A4 wt Allele;

NCIt synonyms : T1; ANT1; PEO3; ANT; PEO2; Solute Carrier Family 25 (Mitochondrial Carrier; Adenine Nucleotide Translocator), Member 4 wt Allele; Adenine Nucleotide Translocator 1 (Skeletal Muscle) Gene; MTDPS12; ANT 1; AAC1;

NCIt definition : Human SLC25A4 wild-type allele is located in the vicinity of 4q35 and is approximately 4 kb in length. This allele, which encodes ADP/ATP translocase 1 protein, is involved in the mediation of cellular energy metabolism. Point mutations in the gene are associated with progressive external ophthalmoplegia with mitochondrial DNA deletions-2.;

GenBank Accession Number : NM_001151;

Details

Origin ID

C52293;

UMLS CUI

C1705600;

OMIM relation
- Solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4q35 [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Electron Transport Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Energy Metabolism Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

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