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The protein encoded by UROS catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway.
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Study substantiated that insufficient activity of UROS is the cause of CEP in the family studied here. and provided strong evidence for LD between markers within the region and the phenotype.
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.
REVIEW: Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase and molecular basis of congenital erythropoietic porphyria
Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.
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.
two novel misense mutations in the UROS gene.
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.
The decrease in the expression of ubiquitous HMBS (show HMBS Antibodies) and UROS mRNAs under hypoxia is associated with accumulation of hypoxia-inducible factor 1alpha protein.
UROS mutations related to erythropoietic porphyria identify a key helix for protein stability.
Data show that in adult UROS C73R mice, spleen and liver weights were 8.2- and 1.5-fold increased, respectively.
Data show that AtDuf3 genes were expressed in roots, leaves, shoot apical meristems, anthers and pollen grains. They may form homodimers or homopolymers, but did not interact with other members of the same family.
The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease).
, uroporphyrinogen III synthase (congenital erythropoietic porphyria)
, hydroxymethylbilane hydrolyase, cyclizing
, uroporphyrinogen-III cosynthetase
, uroporphyrinogen-iii synthase
, uroporphyrinogen III synthase
, hydroxymethylbilane hydrolyase
, uroporphyrinogen-III cosynthase
, hydroxymethylbilane hydrolyase (cyclizing)
, urogen III synthase
, uroporphyrinogen III co-synthase