EHHADH

Chr 3q27.2

enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

MANE:: ENST00000231887.8

OMIM: 607037 ↗NCBI: 1962 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

EHHADH · Q08426

v62025-08-01

Predicted Aligned Error matrix for EHHADH — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.0/ 100

Very high

723 residues

Confidence breakdown

Very high(≥ 90)93%
Confident(70–90)4%
Low(50–70)2%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neonatal cholestasis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

primary Fanconi syndrome
0.52
Fanconi renotubular syndrome 1
0.40
d-bifunctional protein deficiency
0.37
insomnia
0.30
cardiac arrest
0.25
metabolic acidosis
0.23
diabetes mellitus
0.23
chronic kidney disease
0.15
type 2 diabetes mellitus
0.15
hepatocellular carcinoma
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Peroxisomal bifunctional enzyme

Peroxisomal trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities. Catalyzes two of the four reactions of the long chain fatty acids peroxisomal beta-oxidation pathway (By similarity). Can also use branched-chain fatty acids such as 2-methyl-2E-butenoyl-CoA as a substrate, which is hydrated into (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA (By similarity). Optimal isomerase for 2,5 double bonds into 3,5 form isomerization in a range of enoyl-CoA species (Probable). Also able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species (By similarity). With HSD17B4, catalyzes the hydration of trans-2-enoyl-CoA and the dehydrogenation of 3-hydroxyacyl-CoA, but with opposite chiral specificity (PubMed:15060085). Regulates the amount of medium-chain dicarboxylic fatty acids which are essential regulators of all fatty acid oxidation pathways (By similarity). Also involved in the degradation of long-chain dicarboxylic acids through peroxisomal beta-oxidation (PubMed:15060085)