OTC Chromosome X
Ornithine transcarbamylase
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What This Gene Does
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]
Associated Conditions (14)
Ornithine carbamoyltransferase deficiency
Inborn genetic diseases
OTC-related disorder
Global developmental delay
Hyperammonemia
Likely inborn error of metabolism
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
See cases
Abnormal circulating ornithine concentration
Protein avoidance
Squamous cell carcinoma of the head and neck
Key Variants
RS1051365488
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
RS1052206430
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
RS1168053730
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
Health Risk
RS1357402422
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
RS137899554
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
Health Risk
RS141273695
Conflicting classifications of pathogenicity
OTC-related disorder, Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
Health Risk
RS1461226043
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
Health Risk
RS148660170
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency
Health Risk
RS1555972495
Conflicting classifications of pathogenicity
Health Risk
RS1555972538
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
Health Risk
RS1555975685
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
RS184053962
Conflicting classifications of pathogenicity
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
Health Risk
All Variants (368)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS72558424 | Health Risk | Pathogenic | — |
| RS72558425 | Health Risk | Pathogenic | — |
| RS72558427 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558430 | Health Risk | Pathogenic | — |
| RS72558431 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558432 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558433 | Health Risk | Pathogenic | — |
| RS72558434 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558435 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558437 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558438 | Health Risk | Pathogenic | — |
| RS72558439 | Health Risk | Pathogenic | — |
| RS72558441 | Health Risk | Pathogenic | — |
| RS72558442 | Health Risk | Pathogenic | — |
| RS72558444 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558446 | Health Risk | Pathogenic | — |
| RS72558447 | Health Risk | Pathogenic | — |
| RS72558448 | Health Risk | Pathogenic | — |
| RS72558450 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558451 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558453 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558454 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558455 | Health Risk | Pathogenic | — |
| RS72558457 | Health Risk | Pathogenic | — |
| RS72558459 | Health Risk | Pathogenic | — |
| RS72558460 | Health Risk | Pathogenic | — |
| RS72558461 | Health Risk | Pathogenic | — |
| RS72558464 | Health Risk | Pathogenic | — |
| RS72558465 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558466 | Health Risk | Pathogenic | — |
| RS72558467 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558469 | Health Risk | Pathogenic | — |
| RS72558471 | Health Risk | Pathogenic | — |
| RS72558473 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Inborn genetic diseases, Ornithine carbamoyltransferase deficiency |
| RS72558474 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558477 | Health Risk | Pathogenic | — |
| RS72558479 | Health Risk | Pathogenic | — |
| RS72558480 | Health Risk | Pathogenic | — |
| RS72558481 | Health Risk | Pathogenic | — |
| RS72558482 | Health Risk | Pathogenic | — |
| RS72558483 | Health Risk | Pathogenic | — |
| RS72558484 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558485 | Health Risk | Pathogenic | — |
| RS72558486 | Health Risk | Pathogenic | — |
| RS72558487 | Health Risk | Pathogenic | — |
| RS72558489 | Health Risk | Pathogenic | — |
| RS72558490 | Health Risk | Pathogenic | — |
| RS72558493 | Health Risk | Pathogenic | Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558494 | Health Risk | Pathogenic | — |
| RS72558496 | Health Risk | Pathogenic | — |