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Gene

ACAT1

acetyl-CoA acetyltransferase 1

Summary

Cytogenetic location
11q22.3
Coordinates
Chromosome 11: 108,121,567–108,147,603 (GRCh38)
Exons
12 exons across 26 kb
Protein
427 amino acids
Inheritance
Autosomal recessive
Also known as
THIL
Previous symbols
ACAT
MANE Select transcript
ENST00000265838.9NM_000019.4
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 report relevant to this gene

  • Classic Organic Acidurias

    • Beta-Ketothiolase DeficiencyAutosomal recessive

      Caused by variants in ACAT1, which can cause episodes of severe ketoacidosis triggered by illness or fasting.

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

      Knowing allows avoidance of fasting and prompt glucose treatment during illness.

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 ACAT1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where ACAT1 sits. ACAT1 and 10 genes near it on chromosome 11, from 107,634,585 to 108,634,584.Chromosome 1111q22.3p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q25107.8 Mb108 Mb108.2 Mb108.4 Mb108.6 MbELMOD1: 107,591,079–107,666,971, forward strandELMOD1SLN: 107,706,978–107,719,703, reverse strandSLNSLC35F2: 107,790,455–107,928,293, reverse strandSLC35F2RAB39A: 107,928,448–107,968,143, forward strandRAB39ACUL5: 108,008,821–108,107,781, forward strandCUL5ACAT1: 108,121,567–108,147,603, forward strandACAT1NPAT: 108,155,267–108,222,659, reverse strandNPATATM: 108,222,788–108,369,102, forward strandATMC11orf65: 108,308,519–108,467,536, reverse strandC11orf65POGLUT3: 108,472,106–108,498,603, reverse strandPOGLUT3EXPH5: 108,505,435–108,593,780, reverse strandEXPH5Diagram of ACAT1: 12 exons on the forward strand of chromosome 11Exon 1: 7 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 4: 14 known disease-causing sitesExon 5: 20 known disease-causing sitesExon 6: 19 known disease-causing sitesExon 7: 19 known disease-causing sitesExon 8: 14 known disease-causing sitesExon 9: 11 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 11: 22 known disease-causing sitesExon 12: 13 known disease-causing sitesExon 1: 108,121,567–108,121,678, 112 basesExon 2: 108,131,907–108,131,954, 48 basesExon 3: 108,133,820–108,133,937, 118 basesExon 4: 108,134,221–108,134,316, 96 basesExon 5: 108,135,142–108,135,242, 101 basesExon 6: 108,138,898–108,139,041, 144 basesExon 7: 108,140,065–108,140,215, 151 basesExon 8: 108,141,605–108,141,700, 96 basesExon 9: 108,142,437–108,142,550, 114 basesExon 10: 108,143,983–108,144,047, 65 basesExon 11: 108,146,202–108,146,359, 158 basesExon 12: 108,147,270–108,147,603, 334 bases1246810125′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 1.5 kb of the gene's 26 kb; 1,284 of those bases code for the protein.

How a genome test reads ACAT1

199

positions in ACAT1 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 26 kb of ACAT1, introns included, not only the 1.5 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.). ACAT1 gene: acetyl-CoA acetyltransferase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/acat1

Vancouver

Dante Labs. ACAT1 gene: acetyl-CoA acetyltransferase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/acat1

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