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 Primary Fanconi Syndrome. Among its related pathways are PPAR signaling pathway and Peroxisome. GO annotations related to this gene include receptor binding and oxidoreductase activity. An important paralog of this gene is HADHA.