OTC
Chr XX-linkedornithine transcarbamylase
Also known as: OCTD, OTC1, OTCD, OTCase
This nuclear gene encodes a mitochondrial matrix enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. [provided by RefSeq, May 2022]
Primary Disease Associations & Inheritance
Clinical highlights
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
PGx Medication Safety Reviews of Persons With IDD
NOT YET RECRUITINGMitoQ for Early-phase Schizophrenia-spectrum Disorder and Mitochondrial Dysfunction
RECRUITINGAn Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
RECRUITINGFinding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers
NOT YET RECRUITINGAssessment of the Ocular Microbiome in Health and Disease
RECRUITINGClinical Validation of the Aptitude Medical Systems Metrix Respiratory Panel Test in At-Home/Non-Laboratory Settings
NOT YET RECRUITINGNicotinic Receptor Genetic Variation and Alcohol Reward
RECRUITINGAdministration of Oral Probiotic Streptococcus Salivarius K12
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 RECRUITINGLooking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome
ACTIVE NOT RECRUITINGProbiotic Impact on Cognitive Performance, and Metabolic Outcomes in Overweight Young Adults With Impaired Glucose Regulation
RECRUITINGExternal Resources
Links to major genomics databases and tools