EHHADH Antibody – Rabbit Polyclonal

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]

EHHADH: 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Secondary Metabolites Metabolism - limonene and pinene degradation; EC 5.3.3.8; Other Amino Acids Metabolism - beta-alanine; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Amino Acid Metabolism - tryptophan; Oxidoreductase; EC 1.1.1.35; Isomerase; EC 4.2.1.17; Carbohydrate Metabolism - butanoate; Lyase; Lipid Metabolism - fatty acid; Carbohydrate Metabolism - propanoate; Amino Acid Metabolism - lysine degradation

Chromosomal Location of Human Ortholog: 3q26.3-q28

Cellular Component: mitochondrion; peroxisome; cytosol

Molecular Function: enzyme binding; enoyl-CoA hydratase activity; dodecenoyl-CoA delta-isomerase activity; coenzyme binding; 3-hydroxyacyl-CoA dehydrogenase activity; receptor binding

Biological Process: fatty acid beta-oxidation; internal protein amino acid acetylation

Disease: Fanconi Renotubular Syndrome 3