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MGP000152

UniProt Annotations

Entry Information
Gene Namesolute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
Protein EntryADT1_HUMAN
UniProt IDP12235
SpeciesHuman
Comments
Comment typeDescription
DiseaseMitochondrial DNA depletion syndrome 12, cardiomyopathic type (MTDPS12) [MIM:615418]: An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria. {ECO:0000269|PubMed:22187496}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269|PubMed:10926541, ECO:0000269|PubMed:11756613, ECO:0000269|PubMed:12112115, ECO:0000269|PubMed:15792871, ECO:0000269|PubMed:18575922}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.
InteractionQ5S007:LRRK2; NbExp=2; IntAct=EBI-359074, EBI-5323863;
MiscellaneousThe 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 (By similarity). {ECO:0000250}.
SimilarityBelongs to the mitochondrial carrier (TC 2.A.29) family. {ECO:0000305}.
SimilarityContains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule:PRU00282}.
Subcellular LocationMitochondrion inner membrane; Multi-pass membrane protein.
SubunitFound in a complex with ARL2, ARL2BP and SLC25A4. Interacts with ARL2BP (By similarity). Homodimer. Interacts with HIV-1 Vpr. {ECO:0000250, ECO:0000269|PubMed:16120388}.
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