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Gene

SLC25A4

solute carrier family 25 member 4

Summary

Cytogenetic location
4q35.1
Coordinates
Chromosome 4: 185,143,266–185,150,382 (GRCh38)
Exons
4 exons across 7.1 kb
Protein
298 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
T1, AAC1
Previous symbols
PEO3, PEO2, ANT1
MANE Select transcript
ENST00000281456.11NM_001151.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Primary Mitochondrial Disease

    • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions

      Caused by variants in nuclear genes such as POLG, TWNK, SLC25A4 and RRM2B that lead to multiple mitochondrial DNA deletions, causing drooping eyelids, weak eye movements and muscle weakness, usually in adulthood.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing guides monitoring of eye, heart and swallowing function and avoidance of valproate in POLG disease.

    • Mitochondrial DNA Depletion Syndrome

      Caused by variants in nuclear genes such as POLG, TWNK, TK2, DGUOK, MPV17, RRM2B and SUCLA2, which reduce the amount of mitochondrial DNA and can cause muscle, liver or brain disease.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing is directly actionable: valproate must be avoided in POLG disease because of the risk of fatal liver failure, and TK2 deficiency has a nucleoside therapy.

  • Syndromic and Metabolic Cardiomyopathies

    • Mitochondrial DNA Depletion Syndrome 12B (Cardiomyopathic Type)Autosomal recessive

      A condition caused by changes in SLC25A4 that causes hypertrophic cardiomyopathy and muscle weakness from infancy.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
    • Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type)Autosomal dominant

      A severe condition caused by changes in SLC25A4 that causes cardiomyopathy, muscle weakness and lactic acidosis from birth.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How SLC25A4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 4, with a bracket where SLC25A4 sits. SLC25A4 and 14 genes near it on chromosome 4, from 184,646,824 to 185,646,823.Chromosome 44q35.1p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2184.8 Mb185 Mb185.2 Mb185.4 Mb185.6 MbCASP3: 184,627,695–184,650,418, reverse strandCASP3PRIMPOL: 184,648,461–184,698,374, forward strandPRIMPOLCENPU: 184,692,121–184,734,130, reverse strandCENPUACSL1: 184,755,501–184,826,853, reverse strandACSL1HELT: 185,018,490–185,022,065, forward strandHELTSLC25A4: 185,143,266–185,150,382, forward strandSLC25A4CFAP97: 185,158,961–185,210,815, reverse strandCFAP97SNX25: 185,204,237–185,390,928, forward strandSNX25LRP2BP: 185,363,655–185,397,292, reverse strandLRP2BPANKRD37: 185,395,964–185,412,509, forward strandANKRD37UFSP2: 185,397,598–185,425,987, reverse strandUFSP2CFAP96: 185,426,014–185,449,828, forward strandCFAP96CCDC110: 185,445,182–185,471,752, reverse strandCCDC110PDLIM3: 185,499,258–185,535,669, reverse strandPDLIM3SORBS2: 185,585,444–185,956,721, reverse strandSORBS2Diagram of SLC25A4: 4 exons on the forward strand of chromosome 4Exon 1: 2 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 1: 185,143,266–185,143,483, 218 basesExon 2: 185,144,764–185,145,250, 487 basesExon 3: 185,145,759–185,145,899, 141 basesExon 4: 185,146,814–185,150,382, 3,569 bases12345′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.4 kb of the gene's 7.1 kb; 897 of those bases code for the protein.

How a genome test reads SLC25A4

10

positions in SLC25A4 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 7.1 kb of SLC25A4, introns included, not only the 4.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SLC25A4 gene: solute carrier family 25 member 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc25a4

Vancouver

Dante Labs. SLC25A4 gene: solute carrier family 25 member 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc25a4

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