Aliases for EHHADH Gene
External Ids for EHHADH Gene
Previous HGNC Symbols for EHHADH Gene
Previous GeneCards Identifiers for EHHADH Gene
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]
GeneCards Summary for EHHADH Gene
EHHADH (Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with EHHADH include Fanconi Renotubular Syndrome 3 and D-Bifunctional Protein Deficiency. Among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and oxidoreductase activity. An important paralog of this gene is HADHA.