ECHS1 Gene - Enoyl-CoA Hydratase, Short Chain 1
Mitochondrial fatty acid oxidation and valine metabolism gene
Gene Information Card
| Symbol | ECHS1 |
|---|---|
| Full Name | Enoyl-CoA Hydratase, Short Chain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.3 |
| NCBI Gene ID | 1892 ncbi.nlm.nih.gov/gene/1892 |
| Ensembl ID | ENSG00000127884 |
| UniProt ID | P30084 |
| OMIM ID | 602292 |
| HGNC ID | 3251 |
| Aliases | SCEH, ECHS1D |
Description
The ECHS1 gene encodes enoyl-CoA hydratase short chain 1, a mitochondrial enzyme that catalyzes the second step of fatty acid beta-oxidation and is also involved in valine catabolism. It hydrates trans-2-enoyl-CoA to 3-hydroxyacyl-CoA. Mutations in ECHS1 cause mitochondrial enoyl-CoA hydratase deficiency, leading to Leigh syndrome and other metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial enoyl-CoA hydratase deficiency | Loss-of-function mutations impair fatty acid oxidation and valine catabolism, causing accumulation of toxic metabolites | OMIM #616277 |
| Leigh syndrome | Defective mitochondrial energy metabolism due to ECHS1 deficiency leads to neurodegeneration | ClinVar, multiple case reports |
| ECHS1-related metabolic encephalopathy | Impaired enzyme activity disrupts mitochondrial function, resulting in developmental delay and lactic acidosis | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Skeletal muscle | 8.1 | Medium |
| Brain | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma |
| K-562 | 7.8 | Chronic myeloid leukemia |
| HeLa | 6.5 | Cervical adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.475C>T (p.Arg159Trp) | Missense | Rare | Reduced enzyme activity, associated with Leigh syndrome |
| c.8C>T (p.Ala3Val) | Missense | Rare | Impaired mitochondrial targeting, loss of function |
| c.518G>A (p.Gly173Asp) | Missense | Rare | Decreased hydratase activity, metabolic crisis |
Mutation functional classification
Loss of Function (LOF)
Most ECHS1 mutations are loss-of-function, reducing or abolishing enoyl-CoA hydratase activity, leading to substrate accumulation and mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • enoyl-CoA hydratase activity | • fatty acid beta-oxidation |
| • mitochondrial matrix | • valine catabolic process |
| • 3-hydroxyacyl-CoA dehydratase activity |
Pathways
• Fatty acid beta-oxidation (mitochondrial)
• Valine
• leucine and isoleucine degradation
Protein Summary
ECHS1 is a 290-amino acid mitochondrial matrix protein that functions as a homotrimer. It catalyzes the reversible hydration of trans-2-enoyl-CoA to 3-hydroxyacyl-CoA, a key step in fatty acid beta-oxidation. It also participates in valine catabolism. Deficiency leads to accumulation of toxic metabolites and mitochondrial encephalopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECHS1 Knockout HEK293 Cell Line | EDJ-KQ4495 | Human | 1892 | Details Get a Quote |
| ECHS1 Knockout A-549 Cell Line | EDJ-KQ27075 | Human | 1892 | Details Get a Quote |
| ECHS1 Knockout HeLa Cell Line | EDJ-KQ27077 | Human | 1892 | Details Get a Quote |
| ECHS1 Knockout HCT 116 Cell Line | EDJ-KQ25819 | Human | 1892 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
