AlphaFold predicted structure
UROS · P10746
Mean pLDDT
93.1/ 100
Very high
265 residues
Confidence breakdown
- Very high(≥ 90)83%
- Confident(70–90)14%
- Low(50–70)1%
- Very low(< 50)1%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
UROS
Chr 10q26.2uroporphyrinogen III synthase
- MANE:
- ENST00000368797.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cutaneous photosensitivity with a likely genetic cause
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalNon-acute porphyrias
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
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Disease associations (Open Targets)
Congenital erythropoietic porphyria
0.82cutaneous porphyria
0.76neurodegenerative disease
0.43hereditary disease
0.19lamellar ichthyosis
0.08acrokeratosis verruciformis
0.08exfoliative ichthyosis
0.08erythrokeratodermia variabilis
0.07epidermolysis bullosa simplex 2E, with migratory circinate erythema
0.07Epidermolysis bullosa simplex with circinate migratory erythema
0.07
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Uroporphyrinogen-III synthase
Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins (PubMed:11689424, PubMed:18004775). Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme) (PubMed:11689424, PubMed:18004775)