Gene: SLC25A4

Alternate names for this Gene: AAC1|ANT|ANT 1|ANT1|MTDPS12|MTDPS12A|PEO2|PEO3|PEOA2|T1

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.1

Description of this Gene: solute carrier family 25 member 4

Type of Gene: protein-coding

rs886041081 in SLC25A4 gene and Dysmorphic features PMID 27693233 2016 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

rs121912683 in SLC25A4 gene and MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE PMID 22187496 2012 Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.

PMID 16155110 2005 Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.

PMID 27693233 2016 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

PMID 25732997 2015 Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

rs886041081 in SLC25A4 gene and Muscle hypotonia PMID 27693233 2016 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

rs79116769 in SLC25A4 gene and Oestrogen receptor positive breast cancer PMID 30787463 2019 Genome-wide association study of germline variants and breast cancer-specific mortality.

rs104893873 in SLC25A4 gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 PMID 12112115 2002 A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

PMID 11756613 2001 A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.

PMID 10926541 2000 Role of adenine nucleotide translocator 1 in mtDNA maintenance.

PMID 12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

PMID 15792871 2005 A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

PMID 18575922 2008 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

PMID 27693233 2016 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.