SLC25A4 solute carrier family 25 member 4

Gene ID: 291, updated on 3-Nov-2024
Gene type: protein coding
Also known as: T1; ANT; AAC1; ANT1; PEO2; PEO3; ANT 1; PEOA2; MTDPS12; MTDPS12A

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant MedGen: C4310676OMIM: 617184GeneReviews: Mitochondrial DNA Maintenance Defects Overview	See labs
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive MedGen: C3809443OMIM: 615418GeneReviews: Mitochondrial DNA Maintenance Defects Overview	See labs
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MedGen: C1836460OMIM: 609283GeneReviews: Mitochondrial DNA Maintenance Defects Overview	See labs

Genomic context

Location:: 4q35.1

Sequence:: Chromosome: 4; NC_000004.12 (185143266..185150382)

Total number of exons:: 4

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SLC25A4 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SLC25A4 database
Variation Viewer
Related Variants

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