| Entrez Gene ID |
1962 |
| Official Gene Symbol |
EHHADH (GeneCards) |
| Full name |
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase |
| Location |
3q27.2 |
| Other ids |
Vega : OTTHUMG00000156698
MIM : 607037
HGNC : HGNC:3247
Ensembl : ENSG00000113790
|
| Other names |
LBP,
ECHD,
LBFP,
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] |