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: 7390
MIM: 606938
HGNC: 12592
Ensembl: ENSG00000188690
Variants:
dbSNP: 7390
ClinVar: 7390
TCGA: ENSG00000188690
COSMIC: UROS
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30454868 | 2019 | Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. | 4 |
| 30454868 | 2019 | Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. | 4 |
| 28334762 | 2017 | Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. | 10 |
| 28334762 | 2017 | Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. | 10 |
| 22350154 | 2012 | Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria. | 2 |
| 22350154 | 2012 | Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria. | 2 |
| 21343304 | 2011 | Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R. | 9 |
| 21570665 | 2011 | Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria. | 7 |
| 21343304 | 2011 | Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R. | 9 |
| 21570665 | 2011 | Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria. | 7 |
| 19965637 | 2010 | Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. | 5 |
| 19965637 | 2010 | Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. | 5 |
| 19099412 | 2009 | Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability. | 13 |
| 19099412 | 2009 | Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability. | 13 |
| 18004775 | 2008 | Human uroporphyrinogen III synthase: NMR-based mapping of the active site. | 8 |
Citation
Dessen P
UROS (uroporphyrinogen III synthase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75516/uros-(uroporphyrinogen-iii-synthase)
