EPHX1

Chr 1q42.12

epoxide hydrolase 1

MANE:: ENST00000272167.10

OMIM: 132810 ↗NCBI: 2052 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

EPHX1 · P07099

v62025-08-01

Predicted Aligned Error matrix for EPHX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.1/ 100

Very high

455 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)13%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Severe insulin resistance and lipodystrophy syndromes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenias and congenital anaemias
Fetal anomalies
Unknown
IUGR and IGF abnormalities
Monogenic short stature
Unknown
Neonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypercholanemia, familial 1
0.40
Insulin resistance
0.37
hypercholanemia, familial
0.37
lipodystrophy
0.37
heart failure
0.28
esophageal disorder
0.28
hereditary lipodystrophy
0.27
mixed connective tissue disease
0.25
kidney disorder
0.24
ovarian dysfunction
0.24

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

Protein function (UniProt)

Epoxide hydrolase 1

Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). Plays a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids (PubMed:22798687). Metabolizes the abundant endocannabinoid 2-arachidonoylglycerol (2-AG) to free arachidonic acid (AA) and glycerol (PubMed:24958911). Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity)