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Gene

ACSF3

acyl-CoA synthetase family member 3

Summary

Cytogenetic location
16q24.3
Coordinates
Chromosome 16: 89,093,852–89,156,233 (GRCh38)
Exons
11 exons across 62.4 kb
Protein
576 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000614302.5NM_001243279.3
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

  • Methylmalonic & Propionic Acidemia

    • Methylmalonic AcidemiaAutosomal recessive

      Caused by variants in MMUT, MMAA, MMAB, MCEE and related cobalamin-processing genes, which can cause vomiting, poor feeding, metabolic crises, developmental problems and kidney disease.

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

      Knowing allows specialist dietary management, carnitine, vitamin B12 for responsive forms and an emergency plan, which reduces the risk of crises.

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 ACSF3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where ACSF3 sits. ACSF3 and 23 genes near it on chromosome 16, from 88,625,043 to 89,625,042.Chromosome 1616q24.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.388.8 Mb89 Mb89.2 Mb89.4 Mb89.6 MbZC3H18: 88,570,388–88,631,966, forward strandIL17C: 88,638,571–88,640,468, forward strandIL17CCYBA: 88,643,275–88,651,083, reverse strandCYBAMVD: 88,651,934–88,663,166, reverse strandMVDSNAI3: 88,674,992–88,686,513, reverse strandSNAI3RNF166: 88,696,494–88,706,424, reverse strandRNF166CTU2: 88,706,470–88,717,853, forward strandCTU2PIEZO1: 88,715,338–88,785,251, reverse strandPIEZO1CDT1: 88,803,777–88,809,258, forward strandCDT1APRT: 88,808,323–88,811,970, reverse strandAPRTGALNS: 88,813,733–88,857,832, reverse strandGALNSTRAPPC2L: 88,856,220–88,862,686, forward strandTRAPPC2LPABPN1L: 88,863,333–88,866,660, reverse strandPABPN1LCBFA2T3: 88,874,858–88,977,207, reverse strandCBFA2T3ACSF3: 89,093,852–89,156,233, forward strandACSF3CDH15: 89,171,742–89,195,492, forward strandCDH15SLC22A31: 89,195,458–89,201,692, reverse strandSLC22A31ZNF778: 89,217,683–89,237,141, forward strandZNF778ANKRD11: 89,267,619–89,490,706, reverse strandANKRD11: 89,317,046–89,418,292, reverse strandSPG7: 89,490,719–89,557,768, forward strandSPG7RPL13: 89,560,637–89,567,834, forward strandRPL13CPNE7: 89,575,730–89,597,247, forward strandCPNE7DPEP1: 89,613,308–89,638,456, forward strandDPEP1Diagram of ACSF3: 11 exons on the forward strand of chromosome 16Exon 3: 48 known disease-causing sitesExon 4: 14 known disease-causing sitesExon 5: 15 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 7: 14 known disease-causing sitesExon 8: 13 known disease-causing sitesExon 9: 12 known disease-causing sitesExon 10: 12 known disease-causing sitesExon 11: 12 known disease-causing sitesExon 1: 89,093,852–89,093,996, 145 basesExon 2: 89,098,591–89,098,763, 173 basesExon 3: 89,100,662–89,101,347, 686 basesExon 4: 89,102,604–89,102,759, 156 basesExon 5: 89,112,092–89,112,246, 155 basesExon 6: 89,114,339–89,114,487, 149 basesExon 7: 89,120,801–89,120,913, 113 basesExon 8: 89,133,136–89,133,262, 127 basesExon 9: 89,145,267–89,145,401, 135 basesExon 10: 89,145,938–89,146,049, 112 basesExon 11: 89,154,090–89,156,233, 2,144 bases1246810115′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 4.1 kb of the gene's 62.4 kb; 1,731 of those bases code for the protein.

How a genome test reads ACSF3

175

positions in ACSF3 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 62.4 kb of ACSF3, introns included, not only the 4.1 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.). ACSF3 gene: acyl-CoA synthetase family member 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/acsf3

Vancouver

Dante Labs. ACSF3 gene: acyl-CoA synthetase family member 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/acsf3

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