
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]
- Mitochondrial genome maintenance
- Generation of precursor metabolites and energy
- Apoptotic mitochondrial changes
- Adenine transport
- ADP transport
- Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2
- Mitochondrial dna depletion syndrome 12b , autosomal recessive
- Mitochondrial dna depletion syndrome 12a , autosomal dominant
- Sengers syndrome
- Mitochondrial disorders
- General Cardiomyopathy
- Hypertrophic Cardiomyopathy
Based on Ayass Bioscience, LLC Data Analysis
Gene Location

HM-VUS Prevalence
% 0.0510725229826353
Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants
delC=0.000004(1/251128,GnomAD_exome)
delC=0.000024(3/125568,TOPMED)
delC=0.00003(1/31378,GnomAD)
delC=0.0000(0/2188,ALFAProject)