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Mistargeting of peroxisomal EHHADH disrupts mitochondrial metabolism and leads to renal Fanconi's syndrome; this indicates a central role of mitochondria in proximal tubular function.
The Ehhadh is indispensable for the production of medium-chain dicarboxylic acids, providing an explanation for the coordinated induction of mitochondrial and peroxisomal oxidative pathways during fasting.
bile acid biosynthesis, estimated by the ratio of C27/C24-bile acids, is more severely affected in double knock-out mice as compared with DBP-/- mice but was normal in LBP-/- mice
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.
enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase
, peroxisomal bifunctional enzyme
, 3,2-trans-enoyl-CoA isomerase
, L-3-hydroxyacyl-CoA dehydrogenase
, L-bifunctional protein, peroxisomal
, peroxisomal enoyl-CoA hydratase
, L-specific bifunctional protein
, multifunctional enzyme type 1
, peroxisomal bifunctional enzyme type 1
, L-bifunctional enzyme
, L-specific multifunctional beta-oxdiation protein
, 2-enoylacyl-CoA hydratase
, 3-hydroxyacyl-CoA dehydrogenase
, enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme