| Gene Symbol | EHHADH |
| Entrez Gene ID | 1962 |
| Full Name | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase |
| Synonyms | ECHD,FRTS3,L-PBE,LBFP,LBP,PBFE |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. |
| Disorder MIM: | |
| Disorder Html: | ?Fanconi renotubular syndrome 3, 615605 (3) |
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