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/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 beta-Alanine metabolism (KEGG) and Butanoate metabolism. GO annotations related to this gene include receptor binding and oxidoreductase activity. An important paralog of this gene is HADHA.