Gene Symbol | SLC25A4 |
Entrez Gene ID | 291 |
Full Name | solute carrier family 25 member 4 |
Synonyms | AAC1,ANT,ANT 1,ANT1,MTDPS12,MTDPS12A,PEO2,PEO3,PEOA2,T1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3); Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3) |