ECH1 Human

The ECH1 gene is located on chromosome 19q13.2 . The gene encodes a protein that consists of 329 amino acids and contains a C-terminal peroxisomal targeting signal (SKL), which is crucial for its localization to the peroxisomes . The protein shares a high degree of sequence similarity with enoyl-CoA hydratases from various species, indicating its evolutionary conservation and importance .

ECH1 is involved in the auxiliary step of the fatty acid beta-oxidation pathway. Specifically, it catalyzes the isomerization of 3-trans, 5-cis-dienoyl-CoA to 2-trans, 4-trans-dienoyl-CoA . This reaction is essential for the metabolism of unsaturated fatty acids, allowing them to be further processed by other enzymes in the beta-oxidation pathway .

Interestingly, ECH1 is not only localized to the peroxisomes but also to the mitochondria . This dual localization suggests that ECH1 plays a role in both peroxisomal and mitochondrial fatty acid metabolism, highlighting its versatility and importance in cellular energy production .

ECH1 is ubiquitously expressed in various human tissues, with the highest levels observed in skeletal muscle . The expression of ECH1 can be induced by peroxisome proliferators, which are compounds that promote the proliferation of peroxisomes and enhance the expression of genes involved in peroxisomal beta-oxidation . This regulation is mediated through peroxisome proliferator-activated receptors (PPARs), which bind to specific response elements in the promoter regions of target genes .

Mutations or dysregulation of the ECH1 gene can have significant clinical implications. For instance, defects in the beta-oxidation pathway can lead to the accumulation of fatty acids and their derivatives, which can be toxic to cells. This can result in various metabolic disorders, including adrenoleukodystrophy and central nervous system leiomyoma . Understanding the function and regulation of ECH1 is therefore crucial for developing therapeutic strategies for these conditions.

Recombinant ECH1 refers to the enzyme produced through recombinant DNA technology, which involves inserting the ECH1 gene into a suitable expression system, such as bacteria or yeast, to produce the protein in large quantities. This recombinant protein can be used for various research and therapeutic purposes, including studying the enzyme’s function, screening for potential inhibitors, and developing treatments for metabolic disorders.