EHHADH
Description
The EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase) is a protein-coding gene located on chromosome 3.
EHHADH is a human gene that encodes for a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. Mutations of the gene are a cause of peroxisomal disorders such as Zellweger syndrome.
EHHADH encodes for a peroxisomal trifunctional enzyme with three distinct activities: 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase. It plays a crucial role in the peroxisomal beta-oxidation pathway, catalyzing two of the four reactions involved in breaking down long-chain fatty acids. This enzyme can also process branched-chain fatty acids, like 2-methyl-2E-butenoyl-CoA, by hydrating it to (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA. Its isomerase activity is particularly efficient in converting 2,5 double bonds to the 3,5 form within a variety of enoyl-CoA species. Additionally, EHHADH can isomerize both 3-cis and 3-trans double bonds to the 2-trans form in a range of enoyl-CoA species. In collaboration with HSD17B4, EHHADH participates in the hydration of trans-2-enoyl-CoA and the dehydrogenation of 3-hydroxyacyl-CoA, but with opposing chiral specificity. The activity of EHHADH contributes to the regulation of medium-chain dicarboxylic fatty acid levels, which are essential for regulating all fatty acid oxidation pathways. It also participates in the breakdown of long-chain dicarboxylic acids via peroxisomal beta-oxidation.
EHHADH is also known as ECHD, FRTS3, L-PBE, LBFP, LBP, MFE1, PBFE.
