UROS Antibody

1. we show evidence that abnormal protein homeostasis is a prevalent mechanism responsible for UROS deficiency and that modulators of UROS proteolysis such as proteasome inhibitors or chemical chaperones may represent an attractive therapeutic option to reduce porphyrin accumulation and prevent skin photosensitivity in Congenital erythropoietic porphyria (CEP)patients when the genotype includes a missense variant. PMID: 28334762
2. A, T to C change at nucleotide 34313, leading to a substitution of Leucine by Proline at codon 237, was observed in the homozygous state in a family with congenital erythropoietic porphyria. PMID: 22350154
3. REVIEW: Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase and molecular basis of congenital erythropoietic porphyria PMID: 21570665
4. Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R. PMID: 21343304
5. Data show that branchpoint sequence (BPS)mutation reduced the wild-type transcript and UROS enzyme activity in CEP lymphoblasts to approximately 10% and 15% of normal, respectively. PMID: 19965637
6. two novel misense mutations in the UROS gene. PMID: 17298225
7. NMR analyses of URO-synthase titrated with competitive inhibitors N(D)-methyl-1-formylbilane or URO'gen III, revealed resonance perturbations of specific residues lining the cleft between 2 major domains of URO synthase that mapped enzyme's active site. PMID: 18004775
8. The decrease in the expression of ubiquitous HMBS and UROS mRNAs under hypoxia is associated with accumulation of hypoxia-inducible factor 1alpha protein. PMID: 19021769
9. UROS mutations related to erythropoietic porphyria identify a key helix for protein stability. PMID: 19099412

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HGNC: 12592

OMIM: 263700

KEGG: hsa:7390

STRING: 9606.ENSP00000357775

UniGene: Hs.501376