ECHS1 Human, Active
Enoyl-CoA Hydratase, Short Chain1, Enoyl Coenzyme A Hydratase, Short Chain, 1, Mitochondrial, Enoyl-CoA Hydratase, Short Chain, 1, Mitochondrial, Short Chain Enoyl-CoA Hydratase, EC 4.2.1.17, SCEH, Enoyl-CoA Hydratase, Mitochondrial, Short-Chain Enoyl-CoA Hydratase, Enoyl-CoA Hydratase 1, EC 4.2.1, ECHS1D, ECHS1 .
THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.
Description
ECHS1 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 284 amino acids (28-290 a.a) and having a molecular mass of 30.6kDa. ECHS1 is fused to a 21 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Recombinant human ECHS1, produced in E. coli, is a non-glycosylated polypeptide chain consisting of 284 amino acids (residues 28-290). With a molecular weight of 30.6 kDa, the protein includes a 21 amino acid His-tag fused at the N-terminus. Purification is achieved using proprietary chromatographic techniques.
The ECHS1 protein solution (1 mg/ml) is supplied in a buffer containing 20 mM Tris-HCl (pH 8.0), 1 mM DTT, 20% Glycerol, and 100 mM NaCl.
The enzyme exhibits a specific activity exceeding 150 units/mg. This activity is measured as the quantity of enzyme required to hydrolyze 1.0 µmol of crotonoyl-CoA to hydroxybutyryl-CoA per minute at a pH of 7.5 and a temperature of 25°C.
Enoyl-CoA Hydratase, Short Chain1, Enoyl Coenzyme A Hydratase, Short Chain, 1, Mitochondrial, Enoyl-CoA Hydratase, Short Chain, 1, Mitochondrial, Short Chain Enoyl-CoA Hydratase, EC 4.2.1.17, SCEH, Enoyl-CoA Hydratase, Mitochondrial, Short-Chain Enoyl-CoA Hydratase, Enoyl-CoA Hydratase 1, EC 4.2.1, ECHS1D, ECHS1 .
MGSSHHHHHH SSGLVPRGSH MASGANFEYI IAEKRGKNNT VGLIQLNRPK ALNALCDGLI DELNQALKIF EEDPAVGAIV LTGGDKAFAA GADIKEMQNL SFQDCYSSKF LKHWDHLTQV KKPVIAAVNG YAFGGGCELA MMCDIIYAGE KAQFAQPEIL IGTIPGAGGT QRLTRAVGKS LAMEMVLTGD RISAQDAKQA GLVSKICPVE TLVEEAIQCA EKIASNSKIV VAMAKESVNA AFEMTLTEGS KLEKKLFYST FATDDRKEGM TAFVEKRKAN FKDQ.
Product Science Overview
The ECHS1 gene is located on chromosome 10q26.3 in humans . It spans approximately 11 kb and consists of eight exons. The gene encodes a precursor polypeptide of 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 .
ECHS1 catalyzes the second step in the mitochondrial fatty acid beta-oxidation pathway. Specifically, it hydrates 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs . This reaction is crucial for the breakdown of medium- and short-chain fatty acids, ranging from four to sixteen carbon atoms in length . The enzyme exhibits 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 vital for maintaining cellular energy homeostasis. By facilitating the beta-oxidation of fatty acids, it helps generate acetyl-CoA, which enters the citric acid cycle to produce ATP. Additionally, ECHS1 is involved in the catabolism of branched-chain amino acids, further contributing to energy production and metabolic balance .
Mutations in the ECHS1 gene can lead to mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, a rare metabolic disorder characterized by impaired fatty acid oxidation and energy production . This condition can result in a range of symptoms, including muscle weakness, developmental delays, and metabolic crises.
Human recombinant ECHS1 is used in various research applications to study its structure, function, and role in metabolic pathways. Understanding the enzyme’s mechanism can provide insights into metabolic disorders and potential therapeutic targets.
