ECHS1 Human
Description
ECHS1 is fused to a 21 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
Enoyl CoA Hydratase, Short Chain, 1, Mitochondrial (ECHS1) is a crucial enzyme in the mitochondrial fatty acid beta-oxidation pathway. This enzyme is encoded by the ECHS1 gene and plays a significant role in the metabolism of fatty acids, which are vital for energy production in cells.
The ECHS1 gene is located on chromosome 10q26.3 in humans . It spans approximately 11 kb and consists of eight exons. The gene produces a precursor polypeptide containing 290 amino acid residues, which includes an N-terminal mitochondrial targeting domain . This domain is essential for the enzyme’s localization to the mitochondrial matrix, where it performs its function.
ECHS1 catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs . This reaction is the second step in the mitochondrial fatty acid beta-oxidation pathway, a critical process for breaking down fatty acids to produce energy. The enzyme has high substrate specificity for crotonyl-CoA and moderate specificity for other substrates such as acryloyl-CoA and 3-methylcrotonyl-CoA .
The activity of ECHS1 is essential for maintaining cellular energy homeostasis. By facilitating the beta-oxidation of fatty acids, ECHS1 helps generate acetyl-CoA, which enters the citric acid cycle to produce ATP, the primary energy currency of the cell. Additionally, ECHS1 is involved in the catabolic pathways of branched-chain amino acids like isoleucine and valine .
Mutations in the ECHS1 gene can lead to mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, a rare metabolic disorder characterized by a range of symptoms, including developmental delay, hypotonia, and metabolic acidosis . This condition underscores the enzyme’s critical role in energy metabolism and highlights the importance of proper ECHS1 function for normal cellular operations.
Recombinant human ECHS1 is used in various research applications to study its structure, function, and role in metabolic diseases. Understanding the enzyme’s mechanism can provide insights into potential therapeutic targets for metabolic disorders and other conditions related to mitochondrial dysfunction.
