ADP/ATP Translocase 1 (SLC25A4) Mouse Recombinant Protein

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.

Protein type: Transporter; Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter, SLC family

Cellular Component: mitochondrial outer membrane; membrane; mitochondrion; mitochondrial inner membrane; integral to membrane; nucleus; myelin sheath

Molecular Function: protein binding; enzyme binding; transporter activity

Biological Process: apoptotic mitochondrial changes; transport; purine nucleoside transport; transmembrane transport