EHHADH( Human )
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Alias
ECHD|FRTS3|L-PBE|LBFP|LBP|PBFE
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].