ADP/ATP translocase-1 (adenine nucleotide translocator 1, ANT 1, ADP-ATP carrier protein 1, solute carrier family 25 member 4, heart/skeletal ADP/ATP carrier protein, SLC25A4, ANT1)
Jump to navigation
Jump to search
Function
- catalyzes the exchange of ADP & ATP across the mitochondrial inner membrane
- interacts with HIV-1 Vpr
Structure
- homodimer
- belongs to the mitochondrial carrier family
- contains 3 solcar repeats
- the transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle
- odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (putative)
Compartment
mitochondrial inner membrane
Pathology
- mutations in the gene for ANT-1 are associated with large deletions in mitochondrial DNA, possibly due to deficient adenine nucleotide pools for mitochondrial DNA synthesis or lack of a sufficient energy source for synthesis of mitochondrial DNA, or maintenance of its integrity
- defects in SLC25A4 are a cause of autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/103220
- ↑ Moraes CT. A helicase is born. Nat Genet. 2001 Jul;28(3):200-1. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11431681
Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, et al Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet. 2001 Jul;28(3):223-31. Erratum in: Nat Genet 2001 Sep;29(1):100. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11431692 - ↑ UniProt http://www.uniprot.org/uniprot/P12235.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC25A4