Recombinant Human Ornithine Carbamoyltransferase/OTC protein

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Ornithine Carbamoyltransferase (OTC) also known as ornithine aminotransferase is an enzyme critical in the urea cycle. The OTC protein facilitates the conversion of ornithine and carbamoyl phosphate into citrulline a process essential for nitrogen excretion. The human OTC protein has a mass of approximately 36 kilodaltons and is primarily expressed in the liver mitochondria. Protein assays and procurement efforts often focus on obtaining accurate measurements and ensuring high-purity OTC peptides enabling proper functional studies.

Biological function summary

Ornithine carbamoyltransferase plays a significant role in detoxifying ammonia by forming citrulline an important urea cycle intermediate. The protein functions as a homotrimer meaning three identical subunits form an active enzyme complex. This multimeric state facilitates efficient substrate processing allowing effective handling of nitrogen waste. The integral role of OTC in the urea cycle highlights its importance in maintaining systemic nitrogen balance.

Pathways

OTC is a central component of the urea cycle and influences nitrogen metabolism pathways. These pathways include the conversion of ammonia to urea an important detoxifying process for safe excretion by the kidneys. OTC closely interacts with enzymes such as argininosuccinate synthetase highlighting the coordinated action required to advance urea formation. Understanding OTC's participation within these pathways helps identify its regulatory points and the potential impact of genetic variations.

Associated diseases and disorders

Mutations in the OTC gene can lead to ornithine transcarbamylase deficiency a disorder affecting ammonia detoxification. This X-linked genetic condition disrupts normal nitrogen metabolism causing ammonia accumulation particularly harmful to the central nervous system. OTC deficiency shares a functional relationship with other urea cycle disorders such as citrullinemia due to its contribution to the same biochemical pathway. Researchers focus on identifying OTC protein mutations to improve diagnosis and treatment of these conditions.