OTC
Chr XX-linkedornithine transcarbamylase
Also known as: OCTD, OTC1, OTCD, OTCase
The protein is a mitochondrial matrix enzyme that catalyzes a key step in the urea cycle, converting ammonia to urea for excretion. Mutations cause ornithine transcarbamylase deficiency, an X-linked disorder that results in hyperammonemia due to impaired ammonia detoxification. The high pLI score indicates the gene is highly intolerant to loss-of-function mutations.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OTC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Assessment of the Ocular Microbiome in Health and Disease
RECRUITINGClinical Validation of the Aptitude Medical Systems Metrix COVID-19 Test
RECRUITINGProbiotic Impact on Cognitive Performance, and Metabolic Outcomes in Overweight Young Adults With Impaired Glucose Regulation
RECRUITINGLooking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome
ACTIVE NOT RECRUITINGClinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency
ACTIVE NOT RECRUITINGPersonalized Care for Prenatal Stress Reduction & Prevention of Preterm Birth (PTB) Disparities
NOT YET RECRUITINGLong Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC Deficiency
ACTIVE NOT RECRUITINGPTGS1 Genetic Variation and Increased Risk for Persistent Pulmonary Hypertension of the Newborn
RECRUITINGFinding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers
NOT YET RECRUITINGMitoQ for Early-phase Schizophrenia-spectrum Disorder and Mitochondrial Dysfunction
RECRUITINGThe Danish TURNER Cryopreservation Study
RECRUITINGNicotinic Receptor Genetic Variation and Alcohol Reward
RECRUITINGExternal Resources
Links to major genomics databases and tools