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

SLC25A4 (solute carrier family 25 member 4) – BioGPS

Interacting Proteins for SLC25A4 Gene – String

Emw. Structure of the SLC25A4 protein. Based on PyMOL rendering of PDB 1okc.

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)