SLC25A4 Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. Defects in SLC25A4 are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2). Progressive external ophthalmoplegia is 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. Belongs to the mitochondrial carrier family. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter; Transporter, SLC family
Chromosomal Location of Human Ortholog: 8 B1.1|8 26.22 cM
Cellular Component:  membrane; membrane raft; mitochondrial inner membrane; mitochondrial outer membrane; mitochondrion; myelin sheath
Molecular Function:  ATP:ADP antiporter activity; enzyme binding; protein binding; transmembrane transporter activity
Biological Process:  ADP transport; apoptotic mitochondrial changes; negative regulation of cardiac muscle cell apoptotic process; negative regulation of mitochondrial membrane permeability involved in apoptotic process; positive regulation of oxidative phosphorylation uncoupler activity; regulation of mitochondrial membrane permeability; transmembrane transport
Reference #:  P48962 (UniProtKB)
Alt. Names/Synonyms: adenine nucleotide translocase-1; Adenine nucleotide translocator 1; adenine nucleotide translocator 1, skeletal muscle; ADP,ATP carrier protein 1; ADP,ATP carrier protein, heart/skeletal muscle; ADP,ATP carrier protein, heart/skeletal muscle isoform T1; ADP/ATP translocase 1; ADT1; Anc1; ANT 1; Ant1; AU019225; mANC1; OTTMUSP00000017747; Slc25a4; solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4; Solute carrier family 25 member 4
Gene Symbols: Slc25a4
Molecular weight: 32,904 Da
Basal Isoelectric point: 9.73  Predict pI for various phosphorylation states
CST Pathways:  Warburg Effect
Select Structure to View Below

SLC25A4

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene