EHHADH, Official Symbol EHHADHprovided by HGNC Official Full Name enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:3247 See related Ensembl:ENSG00000113790 MIM:607037; AllianceGenome:HGNC:3247 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LBP; ECHD; LBFP; MFE1; PBFE; FRTS3; L-PBE 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, Oct 2009] Expression Biased expression in liver (RPKM 75.1), kidney (RPKM 65.6) and 8 other tissues See more Orthologs mouse all