AlphaFold predicted structure
ECHS1 · P30084
Mean pLDDT
91.7/ 100
Very high
290 residues
Confidence breakdown
- Very high(≥ 90)86%
- Confident(70–90)4%
- Low(50–70)2%
- Very low(< 50)9%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ECHS1
Chr 10q26.3enoyl-CoA hydratase, short chain 1
- Aliases:
- SCEH
- MANE:
- ENST00000368547.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalPyruvate dehydrogenase (PDH) deficiency
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
0.85Leigh syndrome
0.76hereditary disease
0.50neurodegenerative disease
0.37colorectal carcinoma
0.09neoplasm
0.09gastric cancer
0.09cancer
0.09familial digital arthropathy-brachydactyly
0.08Blount disease
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Enoyl-CoA hydratase, mitochondrial
Converts unsaturated trans-2-enoyl-CoA species ((2E)-enoyl-CoA) to the corresponding (3S)-3hydroxyacyl-CoA species through addition of a water molecule to the double bond (PubMed:25125611, PubMed:26251176). Catalyzes the hydration of medium- and short-chained fatty enoyl-CoA thioesters from 4 carbons long (C4) up to C16 (PubMed:26251176). Has high substrate specificity for crotonyl-CoA ((2E)-butenoyl-CoA) and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA (3-methyl-(2E)-butenoyl-CoA) and methacrylyl-CoA ((2E)-2-methylpropenoyl-CoA) (PubMed:26251176). Can bind tiglyl-CoA (2-methylcrotonoyl-CoA), but hydrates only a small amount of this substrate (PubMed:26251176). Plays a key role in the beta-oxidation spiral of short- and medium-chain fatty acid oxidation (PubMed:25125611, PubMed:26251176). At a lower rate than the hydratase reaction, catalyzes the isomerase reaction of trans-3-enoyl-CoA species (such as (3E)-hexenoyl-CoA) to trans-2-enoyl-CoA species (such as (2E)-hexenoyl-CoA), which are subsequently hydrated to 3(S)-3-hydroxyacyl-CoA species (such as (3S)-hydroxyhexanoyl-CoA) (By similarity)
Diseases associated with ECHS1
Curated MONDO disease pages that list ECHS1 among their top associated genes.