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Gene

SLC25A20

solute carrier family 25 member 20

Summary

Cytogenetic location
3p21.31
Coordinates
Chromosome 3: 48,856,926–48,898,882 (GRCh38)
Exons
9 exons across 42 kb
Protein
301 amino acids
Inheritance
Autosomal recessive
Also known as
CAC
Previous symbols
CACT
MANE Select transcript
ENST00000319017.5NM_000387.6
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 report relevant to this gene

  • Fatty Acid Oxidation & Carnitine Cycle Disorders

    • Disorders of Fatty Acid Oxidation and KetogenesisAutosomal recessive

      A group of enzyme and transporter defects, including MCAD, VLCAD, LCHAD, SCAD and HADH deficiency, primary carnitine deficiency and carnitine-acylcarnitine translocase deficiency, that can cause low blood sugar, muscle breakdown, heart and liver problems during periods of fasting or illness.

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

      Knowing allows avoidance of prolonged fasting, an emergency plan for illness and, where relevant, carnitine or dietary fat modification, which can prevent life-threatening episodes.

Inheritance

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 SLC25A20 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where SLC25A20 sits. SLC25A20 and 37 genes near it on chromosome 3, from 48,377,904 to 49,377,903.Chromosome 33p21.31p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2948.4 Mb48.6 Mb48.8 Mb49 Mb49.2 MbFBXW12: 48,372,219–48,401,259, forward strandFBXW12PLXNB1: 48,401,712–48,430,499, reverse strandCCDC51: 48,432,164–48,440,456, reverse strandTMA7: 48,440,213–48,444,218, forward strandTMA7ATRIP: 48,446,710–48,467,645, forward strandATRIPSHISA5: 48,464,205–48,504,826, reverse strandSHISA5TREX1: 48,465,811–48,467,645, forward strandTREX1PFKFB4: 48,517,668–48,562,015, reverse strandPFKFB4UCN2: 48,561,718–48,563,781, reverse strandUCN2COL7A1: 48,564,073–48,595,596, reverse strandCOL7A1UQCRC1: 48,598,990–48,610,976, reverse strandUQCRC1TMEM89: 48,620,759–48,621,769, reverse strandTMEM89SLC26A6: 48,625,718–48,635,510, reverse strandSLC26A6CELSR3: 48,636,463–48,662,886, reverse strandCELSR3NCKIPSD: 48,662,986–48,686,364, reverse strandNCKIPSDIP6K2: 48,688,003–48,740,353, reverse strandIP6K2PRKAR2A: 48,744,591–48,847,894, reverse strandPRKAR2ASLC25A20: 48,856,926–48,898,882, reverse strandSLC25A20ARIH2: 48,918,217–48,986,382, forward strandARIH2P4HTM: 48,989,858–49,007,153, forward strandP4HTMWDR6: 49,007,062–49,015,953, forward strandWDR6DALRD3: 49,015,474–49,022,293, reverse strandDALRD3NDUFAF3: 49,020,459–49,027,593, forward strandIMPDH2: 49,024,315–49,029,452, reverse strandIMPDH2: 49,024,345–49,094,071, reverse strandQRICH1: 49,029,700–49,094,545, reverse strandQARS1: 49,095,932–49,105,130, reverse strandQARS1USP19: 49,105,758–49,120,940, reverse strandUSP19LAMB2: 49,121,113–49,133,118, reverse strandLAMB2CCDC71: 49,161,063–49,166,357, reverse strandCCDC71KLHDC8B: 49,171,239–49,176,487, forward strandKLHDC8BCIMIP7: 49,177,634–49,191,858, reverse strandCIMIP7IHO1: 49,198,428–49,277,629, forward strandIHO1C3orf62: 49,268,596–49,277,236, reverse strandC3orf62USP4: 49,277,144–49,340,712, reverse strandUSP4GPX1: 49,357,174–49,358,605, reverse strandGPX1: 49,357,176–49,412,051, reverse strandRHOA: 49,359,136–49,412,998, reverse strandRHOADiagram of SLC25A20: 9 exons on the reverse strand of chromosome 3Exon 9: 2 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 11 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 3: 11 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 1: 4 known disease-causing sitesExon 9: 48,856,926–48,857,772, 847 basesExon 8: 48,858,507–48,858,631, 125 basesExon 7: 48,859,092–48,859,201, 110 basesExon 6: 48,859,555–48,859,627, 73 basesExon 5: 48,862,542–48,862,659, 118 basesExon 4: 48,879,358–48,879,448, 91 basesExon 3: 48,883,997–48,884,124, 128 basesExon 2: 48,891,980–48,892,072, 93 basesExon 1: 48,898,690–48,898,882, 193 bases9864215′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 1.8 kb of the gene's 42 kb; 906 of those bases code for the protein.

How a genome test reads SLC25A20

74

positions in SLC25A20 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 42 kb of SLC25A20, introns included, not only the 1.8 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.). SLC25A20 gene: solute carrier family 25 member 20. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc25a20

Vancouver

Dante Labs. SLC25A20 gene: solute carrier family 25 member 20 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc25a20

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