Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5009
MIM: 300461
HGNC: 8512
Ensembl: ENSG00000036473
Variants:
dbSNP: 5009
ClinVar: 5009
TCGA: ENSG00000036473
COSMIC: OTC
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000036473 | ENST00000039007 | P00480 |
| ENSG00000036473 | ENST00000643344 | A0A2R8Y829 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166114316 | sodium phenylbutyrate | Chemical | LabelAnnotation | associated | |||
| PA166176020 | sodium benzoate / sodium phenylacetate | Chemical | LabelAnnotation | associated | |||
| PA451846 | valproic acid | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38448019 | 2024 | [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome]. | 0 |
| 38448019 | 2024 | [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome]. | 0 |
| 36854409 | 2023 | [Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency]. | 0 |
| 37146589 | 2023 | The functional impact of 1,570 individual amino acid substitutions in human OTC. | 6 |
| 38078487 | 2023 | Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation. | 0 |
| 36854409 | 2023 | [Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency]. | 0 |
| 37146589 | 2023 | The functional impact of 1,570 individual amino acid substitutions in human OTC. | 6 |
| 38078487 | 2023 | Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation. | 0 |
| 35605046 | 2022 | A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. | 3 |
| 35605046 | 2022 | A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. | 3 |
| 33387664 | 2021 | Mitochondrial dysfunction as a mechanistic biomarker in patients with non-alcoholic fatty liver disease (NAFLD). | 26 |
| 33611823 | 2021 | Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study. | 2 |
| 33851512 | 2021 | Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review. | 5 |
| 34015158 | 2021 | Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity. | 4 |
| 34906067 | 2021 | OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf(ash) mice, and govern susceptibility to RNA-based therapies. | 2 |
Citation
Dessen P
OTC (ornithine transcarbamylase)
Atlas Genet Cytogenet Oncol Haematol. 2007-12-01
Online version: http://atlasgeneticsoncology.org/gene/49879/otc
