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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ECHS1
enoyl-CoA hydratase, short chain 1
Chromosome 10 Β· 10q26.3
NCBI Gene: 1892Ensembl: ENSG00000127884.6HGNC: HGNC:3151UniProt: P30084
132PubMed Papers
21Diseases
0Drugs
64Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
fatty acid beta-oxidationL-lysine catabolic processmitochondrionmitochondrial matrixmitochondrial short-chain Enoyl-Coa hydratase 1 deficiencygenetic disorderLeigh syndromeneurodegenerative disease
✦AI Summary

ECHS1 (enoyl-CoA hydratase, short chain 1) is a key mitochondrial enzyme that catalyzes the hydration of medium- and short-chain enoyl-CoA substrates in fatty acid Ξ²-oxidation and branched-chain amino acid metabolism 1. The enzyme converts trans-2-enoyl-CoA species to corresponding 3-hydroxyacyl-CoA species, with high specificity for crotonyl-CoA and moderate activity toward other substrates 1. ECHS1 plays crucial roles beyond metabolism, regulating histone crotonylation through crotonyl-CoA availability, which affects chr10 remodeling and gene expression 2. In cancer contexts, ECHS1 dysregulation promotes malignant behaviors including cell proliferation, metastasis, and drug resistance 1. ECHS1 deficiency causes severe mitochondrial dysfunction leading to Leigh syndrome, a neurodegenerative disorder with poor survival outcomes 3. The enzyme also influences cardiac function, where deficiency leads to cardiomyopathy through enhanced histone acetylation 4. In early embryonic development, ECHS1-mediated histone crotonylation facilitates zygotic genome activation 5. Therapeutically, ECHS1 represents a promising target, with interventions including dietary modifications and nicotinamide mononucleotide showing beneficial effects in experimental models 46.

Sources cited
1
ECHS1 is a key enzyme in mitochondrial fatty acid Ξ²-oxidation with substrate specificity and cancer-related functions
PMID: 36567598
2
ECHS1 regulates histone crotonylation through crotonyl-CoA availability affecting chromatin remodeling
PMID: 37198486
3
ECHS1 deficiency causes Leigh syndrome with severe survival outcomes
PMID: 35094435
4
ECHS1 deficiency leads to cardiomyopathy through histone acetylation mechanisms
PMID: 35540099
5
ECHS1-mediated histone crotonylation facilitates zygotic genome activation in embryos
PMID: 40593492
6
ECHS1 represents a therapeutic target with various intervention strategies
PMID: 40804397
Disease Associationsβ“˜21
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiencyOpen Targets
0.85Strong
genetic disorderOpen Targets
0.49Moderate
Leigh syndromeOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
colorectal carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
Blount diseaseOpen Targets
0.07Suggestive
Absent tibia - polydactylyOpen Targets
0.07Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.07Suggestive
tibial hemimeliaOpen Targets
0.07Suggestive
Hypoplastic tibiae - postaxial polydactylyOpen Targets
0.06Suggestive
AcheiropodiaOpen Targets
0.06Suggestive
Fibular aplasia - ectrodactylyOpen Targets
0.06Suggestive
fibular aplasia-ectrodactyly syndromeOpen Targets
0.06Suggestive
Tibial aplasia - ectrodactylyOpen Targets
0.05Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.05Suggestive
metaphyseal anadysplasiaOpen Targets
0.05Suggestive
Gollop-Wolfgang complexOpen Targets
0.05Suggestive
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiencyUniProt
Pathogenic Variants64
NM_004092.4(ECHS1):c.88+5G>APathogenic
not provided|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
β˜…β˜…β˜†β˜†2026
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)Pathogenic
not provided|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 273
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided|See cases
β˜…β˜…β˜†β˜†2026β†’ Residue 159
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)Pathogenic
not provided|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 173
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 132
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 195
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)Pathogenic
Leigh syndrome|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 238
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided|See cases|Leigh syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 42
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided|ECHS1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 59
NM_004092.4(ECHS1):c.139G>A (p.Val47Met)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 47
NM_004092.4(ECHS1):c.161G>A (p.Arg54His)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 54
NM_004092.4(ECHS1):c.414+1G>APathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|Thymoma|not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2024
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided|ECHS1-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 54
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 180
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 277
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys)Likely pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 181
NM_004092.4(ECHS1):c.832G>A (p.Ala278Thr)Likely pathogenic
not provided|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
β˜…β˜…β˜†β˜†2023β†’ Residue 278
NM_004092.4(ECHS1):c.601C>T (p.Gln201Ter)Pathogenic
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 201
NM_004092.4(ECHS1):c.370dup (p.Thr124fs)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 124
View on ClinVar β†—
Related Genes
ACAA1Protein interaction100%ECI1Protein interaction100%HSD17B10Protein interaction100%ACOX3Protein interaction99%HSD17B4Protein interaction99%ACADLProtein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
21%
Brain
8%
Ovary
7%
Lung
6%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
ECHS1ACAA1ECI1HSD17B10ACOX3HSD17B4ACADL
PROTEIN STRUCTURE
Preparing viewer…
PDB8ZRU Β· 2.18 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.40–0.91]
RankingsWhere ECHS1 stands among ~20K protein-coding genes
  • #3,519of 20,598
    Most Researched132 Β· top quartile
  • #1,118of 5,498
    Most Pathogenic Variants64 Β· top quartile
  • #8,237of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedECHS1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Lysine catabolism reprograms tumour immunity through histone crotonylation.
PMID: 37198486
Nature Β· 2023
1.00
2
Hypoxia-induced downregulation of PGK1 crotonylation promotes tumorigenesis by coordinating glycolysis and the TCA cycle.
PMID: 39134530
Nat Commun Β· 2024
0.90
3
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
PMID: 35094435
Ann Neurol Β· 2022
0.80
4
Biological Role and Mechanism of Lipid Metabolism Reprogramming Related Gene ECHS1 in Cancer.
PMID: 36567598
Technol Cancer Res Treat Β· 2022
0.70
5
Acetylation-induced degradation of ECHS1 enhances BCAA accumulation and proliferation in KRAS-mutant colorectal cancer.
PMID: 40437561
J Exp Clin Cancer Res Β· 2025
0.60