Entrez gene ID | | 1962 |
Official gene symbol | | EHHADH |
Full name | | enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase |
Aliases | | ,ECHD,L-PBE,LBFP,LBP,MGC120586,PBFE, |
Gene summary | | 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] |
Location | | Chromosome: 3 Locus: 3q26.3-q28 |
Gene position | | 184971886 - 184908412 Map Viewer |
Gene orientation | | minus |
Gene size | | 63475 bp |
Gene sequence |
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OMIM ID | | 607037 |