EPHX2


Description

The EPHX2 (epoxide hydrolase 2) is a protein-coding gene located on chromosome 8.

EPHX2 gene encodes the enzyme soluble epoxide hydrolase (sEH), a bifunctional protein with both epoxide hydrolase and lipid-phosphate phosphatase activities. sEH is found in both the cytosol and peroxisomes, where it converts epoxides to diols, contributing to their excretion. Mutations in EPHX2 are linked to familial hypercholesterolemia. While most highly expressed in the liver, sEH is also present in other tissues like vascular endothelium, leukocytes, red blood cells, smooth muscle cells, adipocytes, and kidney proximal tubules. In the brain, it is widely distributed in neuronal cell bodies, astrocytes, and oligodendrocytes. sEH exists as a homodimer with its epoxide hydrolase activity located in the C-terminal domain and its phosphatase activity in the N-terminal domain.

EPHX2 encodes a bifunctional enzyme that plays a role in xenobiotic metabolism by degrading potentially toxic epoxides. It also determines steady-state levels of physiological mediators. The enzyme's C-terminal domain has epoxide hydrolase activity, acting on epoxides and arene oxides. (UniProtKB:P80299, PubMed:12574508, PubMed:12574510, PubMed:12869654, PubMed:21217101, PubMed:22798687)

EPHX2 is also known as ABHD20, CEH, SEH.

Associated Diseases


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