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) |