Gene Symbol | EPHX2 |
Entrez Gene ID | 2053 |
Full Name | epoxide hydrolase 2 |
Synonyms | CEH,SEH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3) |