{
 "gene": "OTC",
 "run_date": "2026-06-10T05:19:53",
 "timeline": {
  "current_model": "Human OTC (ornithine transcarbamylase) is a mitochondrial enzyme that catalyzes the transfer of a carbamoyl group from carbamoyl phosphate to ornithine to produce citrulline, functioning as an obligate homotrimer whose active site and core domain are required for catalytic activity; its expression in liver hepatocytes is controlled by a promoter-enhancer interaction dependent on HNF4\u03b1 binding, and the proportion of OTC-expressing hepatocytes (governed by X-inactivation mosaicism in females) directly determines functional ureagenesis capacity; OTC-derived citrulline also supports de novo arginine synthesis and thereby basal nitric oxide production in both liver and a subset of nitrergic neurons; pathogenic missense mutations at core/active-site residues cause complete loss of activity often through misfolding/degradation of the mitochondrial precursor, while surface mutations cause partial activity loss, and intronic/promoter variants reduce expression through splicing or transcriptional defects."
 },
 "narrative": {
  "mechanism_profile": {
   "molecular_activity": [
    {
     "term_id": "GO:0016740",
     "term_label": "transferase activity",
     "supporting_discovery_ids": [
      13,
      23,
      7,
      25,
      21
     ]
    },
    {
     "term_id": "GO:0016874",
     "term_label": "ligase activity",
     "supporting_discovery_ids": [
      13,
      23
     ]
    }
   ],
   "localization": [
    {
     "term_id": "GO:0005739",
     "term_label": "mitochondrion",
     "supporting_discovery_ids": [
      7,
      9
     ]
    }
   ],
   "pathway": [
    {
     "term_id": "R-HSA-1430728",
     "term_label": "Metabolism",
     "supporting_discovery_ids": [
      13,
      10,
      11
     ]
    },
    {
     "term_id": "R-HSA-74160",
     "term_label": "Gene expression (Transcription)",
     "supporting_discovery_ids": [
      15,
      22
     ]
    }
   ],
   "complexes": [],
   "partners": [],
   "other_free_text": []
  }
 },
 "prefetch_data": {
  "uniprot": {
   "accession": "P00480",
   "full_name": "Ornithine transcarbamylase, mitochondrial"
  }
 },
 "evaluation": {
  "pairwise": "win",
  "faith_supported": 6,
  "faith_total": 6,
  "faith_pct": 100.0
 },
 "cost": {
  "total_usd": 0.218121
 }
}