SLC25A4 Chromosome 4
Solute carrier family 25 member 4
Upload your DNA to see your personal genotypes for variants in SLC25A4.
What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 25
Locus Type
gene with protein product
Location
4q35.1
Ensembl
ENSG00000151729
Associated Conditions (17)
SLC25A4-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 2
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type)
autosomal dominant
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type)
autosomal recessive
Mitochondrial disease
Inborn genetic diseases
Inborn mitochondrial myopathy
Hypertrophic cardiomyopathy
Mitochondrial respiratory chain defects
Abnormality of mitochondrial metabolism
Myopia
Progressive sensorineural hearing impairment
Vertigo
Left ventricular hypertrophy
Key Variants
RS142164891
Conflicting classifications of pathogenicity
SLC25A4-related disorder, SLC25A4-related disorder
Health Risk
RS886059266
Conflicting classifications of pathogenicity
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions
Health Risk
RS1553967481
Likely pathogenic
Health Risk
RS1560841701
Likely pathogenic
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type)
Health Risk
RS1734410152
Likely pathogenic
Health Risk
RS28999114
Likely pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions
Health Risk
RS863224208
Likely pathogenic
Health Risk
RS104893873
Pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions
Health Risk
RS104893874
Pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions
Health Risk
RS104893876
Pathogenic
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions
Health Risk
RS1163573848
Pathogenic
Health Risk
RS1734410318
Pathogenic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142164891 | Health Risk | Conflicting classifications of pathogenicity | SLC25A4-related disorder, SLC25A4-related disorder |
| RS886059266 | Health Risk | Conflicting classifications of pathogenicity | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS1553967481 | Health Risk | Likely pathogenic | — |
| RS1560841701 | Health Risk | Likely pathogenic | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) |
| RS1734410152 | Health Risk | Likely pathogenic | — |
| RS28999114 | Health Risk | Likely pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS863224208 | Health Risk | Likely pathogenic | — |
| RS104893873 | Health Risk | Pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS104893874 | Health Risk | Pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS104893876 | Health Risk | Pathogenic | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| RS1163573848 | Health Risk | Pathogenic | — |
| RS1734410318 | Health Risk | Pathogenic | — |
| RS2477166095 | Health Risk | Pathogenic | — |
| RS2477168490 | Health Risk | Pathogenic | — |
| RS398122942 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) |
| RS770816416 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) |
| RS863224209 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, SLC25A4-related disorder |
| RS886041080 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) |
| RS886041081 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial disease |
| RS886041082 | Health Risk | Pathogenic | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant, Mitochondrial disease |
| RS121912683 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive, Inborn mitochondrial myopathy |