EPHX2 Chromosome 8
Epoxide hydrolase 2
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What This Gene Does
This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
"Abhydrolase domain containing|HAD Asp-based non-protein phosphatases"
Locus Type
gene with protein product
Location
8p21.2-p21.1
Ensembl
ENSG00000120915
Associated Conditions (3)
Hypercholesterolemia
familial
1
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751141 | Health Risk | risk factor | Hypercholesterolemia, familial, 1 |