Aliases for SLC25A4 Gene
External Ids for SLC25A4 Gene
Previous Symbols for SLC25A4 Gene
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]
GeneCards Summary for SLC25A4 Gene
SLC25A4 (Solute Carrier Family 25 (Mitochondrial Carrier; Adenine Nucleotide Translocator), Member 4) is a Protein Coding gene. Diseases associated with SLC25A4 include progressive external ophthalmoplegia with mitochondrial dna deletions 3 and mitochondrial dna depletion syndrome 12. Among its related pathways are Disease and Apoptotic Pathways in Synovial Fibroblasts. GO annotations related to this gene include adenine transmembrane transporter activity. An important paralog of this gene is SLC25A5.
UniProtKB/Swiss-Prot for SLC25A4 Gene
Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane