OTC Human

Ornithine carbamoyltransferase (OTC), also known as ornithine transcarbamylase, is a mitochondrial enzyme that plays a crucial role in the urea cycle. This enzyme is responsible for catalyzing the reaction between carbamoyl phosphate and ornithine to form citrulline and phosphate . The recombinant form of human OTC is produced using genetic engineering techniques, typically expressed in E. coli for research and therapeutic purposes .

OTC is a trimeric protein, meaning it consists of three identical subunits. Each subunit contributes to the formation of the enzyme’s active sites, which are located at the cleft between the monomers . The enzyme’s primary function is to facilitate the sixth step in the biosynthesis of the amino acid arginine in prokaryotes and to play an essential role in the urea cycle in mammals .

In mammals, the urea cycle is vital for detoxifying ammonia, a byproduct of amino acid metabolism. Ammonia is converted into urea, a less toxic compound, which is then excreted from the body. This process is crucial for maintaining nitrogen balance and preventing the accumulation of toxic levels of ammonia in the blood .

The gene encoding OTC is located on the X chromosome in humans. This gene is highly conserved across different species, indicating its essential role in metabolism . Mutations in the OTC gene can lead to OTC deficiency, a rare X-linked genetic disorder characterized by hyperammonemia, which can cause severe neurological damage if left untreated .

Recombinant human OTC is produced using recombinant DNA technology. The gene encoding human OTC is cloned into an expression vector, which is then introduced into E. coli or other suitable host cells. The host cells express the OTC protein, which is subsequently purified for use in research and therapeutic applications .

Recombinant OTC is used in various studies to understand the enzyme’s structure, function, and role in metabolic disorders. It also serves as a potential therapeutic agent for treating OTC deficiency by providing a source of functional enzyme to patients with this condition .

OTC deficiency is a serious metabolic disorder that requires prompt diagnosis and treatment. Recombinant human OTC has shown promise as a therapeutic option for managing this condition. By supplementing the deficient enzyme, recombinant OTC can help restore normal urea cycle function and reduce the risk of hyperammonemia .