EHHADH( Human )

Entrez Gene 1962 Entrez Gene 1962
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].

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