SLC25A4 Antibody – Rabbit Polyclonal

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]

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

Chromosomal Location of Human Ortholog: 4q35

Cellular Component: mitochondrion; integral to plasma membrane; mitochondrial inner membrane; nucleus

Molecular Function: protein binding; adenine transmembrane transporter activity

Biological Process: adenine transport; mitochondrial genome maintenance; apoptotic mitochondrial changes; generation of precursor metabolites and energy; viral reproduction; transport; energy reserve metabolic process; regulation of insulin secretion; transmembrane transport

Disease: Mitochondrial Dna Depletion Syndrome 12 (cardiomyopathic Type); Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2