Ornithine transcarbamylase, mitochondrial
GeneName
OTC
Summary
OTC, also known as OTCase or hOTC, is a 40 kDa mitochondrial enzyme that is primarily located in the mitochondrial inner membrane and matrix. It catalyses the conversion of ornithine and carbamoyl phosphate to citrulline and phosphate, playing a crucial role in the urea cycle, which is essential for the detoxification of ammonia in the liver. Additionally, OTC is involved in the biosynthesis of arginine and citrulline, and it participates in various metabolic processes including ammonium homeostasis and responses to biotin and insulin.
Importance
OTC is relevant to: - Urea cycle disorders, particularly ornithine transcarbamylase deficiency, which can lead to hyperammonemia and associated neurological complications - Metabolic pathways involving arginine and citrulline, impacting nitrogen metabolism and cardiovascular health - Liver development and function, as it is essential for ammonia detoxification and overall metabolic homeostasis - Responses to environmental stimuli, such as xenobiotic exposure and nutrient availability, highlighting its role in metabolic adaptation.
Top Products
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Abcam Product Citation Summary
The data indicates that the OTC target was investigated in the context of cell viability and treatment effects using human cell lines. The use of western blotting suggests a focus on protein expression levels related to these treatments.
Abcam Product Citation Table
Function
Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline (PubMed:2556444, PubMed:6372096, PubMed:8112735). The urea cycle ensures the detoxification of ammonia by converting it to urea for excretion (PubMed:2556444).
Involvement in disease
Ornithine carbamoyltransferase deficiency
OTCD
An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Nitrogen metabolism; urea cycle; L-citrulline from L-ornithine and carbamoyl phosphate: step 1/1.
Post-translational modifications
Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.
Sequence Similarities
Belongs to the aspartate/ornithine carbamoyltransferase superfamily. OTCase family.
Tissue Specificity
Mainly expressed in liver and intestinal mucosa.
Cellular localization
- Mitochondrion matrix
Alternative names
OTCase, OTC