UROD Antibody

1. a new mutation in the UROD gene in Egyptian patients with Hepatoerythropoietic porphyria, is reported. PMID: 26789143
2. a new insight in the conformational changes occurred in the mutant structures of UROD protein. PMID: 24777812
3. Data suggest that the traditional Chinese medicine (TCM) candidate potential three-in-one inhibitors for three drug target proteins epidermal growth factor receptor (EGFR), Her2, and uroporphyrinogen decarboxylase (UROD) against head and neck cancer. PMID: 23140436
4. Expression of the D306Y mutation results in an insoluble recombinant protein. G318R and K297N have little effect on the structure or activity of recombinant URO-D, but the proteins display reduced stability in vitro. PMID: 19656450
5. Among seventeen F-PCT patients, sixteen UROD mutations were identified. PMID: 23545314
6. analysis of uroporphyrinogen decarboxylase as a potential target for specific components of traditional Chinese medicine PMID: 23209648
7. Mutations in UROD gene is associated with familial porphyria cutanea tarda. PMID: 22382040
8. Hepatoerythropoietic porphyria and familial porphyria cutanea tarda G281E mutation in the uroporphyrinogen decarboxylase gene PMID: 21079081
9. function of Arg37 in uroporphyrinogen III decarboxylase PMID: 20553007
10. description of 3 siblings with hepatoerythropoietic porphyria; sequencing of the UROD gene revealed compound heterozygosity for a novel missense mutation, V166A, and a complex deletion/insertion, 645del1053ins10 PMID: 20479301
11. Sequence deletions in uroporphyrinogen decarboxylase is associated with Porphyria Cutanea Tarda. PMID: 15046048
12. we identified eight mutations in 18 previously unclassified porphyria cutanea tarda families PMID: 15186324
13. Sequencing of the hydroxymethylbilane synthase and uroporphyrinogen decarboxylase genes confirmed the relatively rare diagnosis of dual porphyria, and revealed a novel uroporphyrinogen decarboxylase mutation PMID: 16390615
14. There is a high degree of molecular heterogeneity of familial porphyria cutanea tarda in Spain and molecular genetic analysis is useful in distinguish between F-PCT and sporadic PCT. PMID: 17627795
15. role of UROD mutations as a strong risk factor for porphyria cutanea tarda even in areas where environmental factors (hepatitis C virus) have been shown to be highly associated with the disease PMID: 19419417

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HGNC: 12591

OMIM: 176100

KEGG: hsa:7389

STRING: 9606.ENSP00000246337

UniGene: Hs.78601