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Gene

ECHS1

enoyl-CoA hydratase, short chain 1

Summary

Cytogenetic location
10q26.3
Coordinates
Chromosome 10: 133,362,485–133,373,354 (GRCh38)
Exons
8 exons across 10.9 kb
Protein
290 amino acids
Also known as
SCEH
MANE Select transcript
ENST00000368547.4NM_004092.4
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

    • Leigh Syndrome

      • One of 69 genes linked to it

        A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

        • ClinGen rates the link definitive
        • 1 GenCC submitter rates it definitive or strong

    How ECHS1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 10, with a bracket where ECHS1 sits. ECHS1 and 20 genes near it on chromosome 10, from 132,867,920 to 133,867,919.Chromosome 1010q26.3p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.3133 Mb133.2 Mb133.4 Mb133.6 Mb133.8 MbCFAP46: 132,806,494–132,942,823, reverse strandCFAP46ADGRA1: 133,087,814–133,131,675, forward strandADGRA1KNDC1: 133,159,991–133,226,412, forward strandKNDC1UTF1: 133,229,352–133,231,558, forward strandUTF1VENTX: 133,235,769–133,241,929, forward strandVENTXADAM8: 133,262,416–133,276,909, reverse strandADAM8TUBGCP2: 133,278,635–133,318,823, reverse strandTUBGCP2ZNF511: 133,308,885–133,313,163, forward strandZNF511-PRAP1: 133,309,410–133,352,529, forward strandCALY: 133,324,072–133,336,980, reverse strandPRAP1: 133,347,147–133,354,013, forward strandPRAP1FUOM: 133,353,952–133,358,796, reverse strandFUOMECHS1: 133,362,485–133,373,354, reverse strandECHS1PAOX: 133,378,961–133,393,943, forward strandPAOX: 133,380,017–133,420,271, forward strandMTG1: 133,394,071–133,422,765, forward strandMTG1SPRN: 133,420,666–133,424,625, reverse strandSPRNSCART1: 133,453,928–133,523,558, forward strandSCART1CYP2E1: 133,520,406–133,561,220, forward strandCYP2E1SYCE1: 133,552,822–133,569,835, reverse strandSYCE1FRG2B: 133,623,895–133,626,795, reverse strandFRG2BDiagram of ECHS1: 8 exons on the reverse strand of chromosome 10Exon 8: 4 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 8 known disease-causing sitesExon 1: 8 known disease-causing sitesExon 8: 133,362,485–133,362,933, 449 basesExon 7: 133,364,658–133,364,725, 68 basesExon 6: 133,365,976–133,366,095, 120 basesExon 5: 133,366,889–133,366,993, 105 basesExon 4: 133,368,923–133,369,022, 100 basesExon 3: 133,369,904–133,370,031, 128 basesExon 2: 133,370,560–133,370,757, 198 basesExon 1: 133,373,246–133,373,354, 109 bases876543215′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 1.3 kb of the gene's 10.9 kb; 873 of those bases code for the protein.

    How a genome test reads ECHS1

    43

    positions in ECHS1 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 10.9 kb of ECHS1, introns included, not only the 1.3 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.). ECHS1 gene: enoyl-CoA hydratase, short chain 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/echs1

    Vancouver

    Dante Labs. ECHS1 gene: enoyl-CoA hydratase, short chain 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/echs1

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