≡

Uroporphyrinogen III Synthase (UROS)

[Edit]

Congenital Erythropoietic Porphyria; Hydroxymethylbilane hydrolyase [cyclizing]; Uroporphyrinogen-III cosynthase

Uroporphyrinogen III Synthase (UROS)
CCC G909
HGNC 12592
MGI 98917
PubMed 19490211
RGD 1310396
UniProt P10746
Wiki UROS
Uroporphyrinogen III synthase is also known as hydroxymethylbilane hydrolyase (cyclizing) (EC 4.2.1.75). It is the fourth enzyme in the 8-enzyme pathway in the conversion of glycine and succinyl-CoA to heme. It is responsible for the conversion of the linear tetrapyrrole, hydroxymethylbilane, to the cyclic tetrapyrrole, uroporphyrinogen III.
The sequence encoded a 265-amino acid protein with a molecular mass of 28,607 Da. By Northern blot, 5-prime RACE, and multiple-tissue array analyses, Aizencang et al. (2000) demonstrated the presence of 2 UROS transcripts: an erythroid-specific transcript and a housekeeping transcript, which was present at low levels in all 76 tissues tested, with highest abundance in skeletal and heart muscle and in the caudate nucleus and amygdala.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Uroporphyrinogen III Synthase (UROS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Uroporphyrinogen III Synthase (UROS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Uroporphyrinogen III Synthase (UROS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Uroporphyrinogen III Synthase (UROS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Uroporphyrinogen III Synthase (UROS) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Uroporphyrinogen III Synthase (UROS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Uroporphyrinogen III Synthase (UROS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Uroporphyrinogen III Synthase (UROS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Uroporphyrinogen III Synthase (UROS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Uroporphyrinogen III Synthase (UROS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Uroporphyrinogen III Synthase (UROS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Uroporphyrinogen III Synthase (UROS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Uroporphyrinogen III Synthase (UROS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Uroporphyrinogen III Synthase (UROS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Uroporphyrinogen III Synthase (UROS) ELISA Kit Customized Service Offer
  1. "Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA."Proc. Natl. Acad. Sci. U.S.A. 85:7049-7053(1988) [PubMed] [Europe PMC] [Abstract]
  2. "Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression."Genomics 70:223-231(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and comparative analysis of human chromosome 10." Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene."Hum. Mutat. 7:187-192(1996) [PubMed] [Europe PMC] [Abstract]
  7. "Crystal structure of human uroporphyrinogen III synthase."EMBO J. 20:5832-5839(2001) [PubMed] [Europe PMC] [Abstract]
  8. "Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther's disease)."Blood 75:1763-1765(1990) [PubMed] [Europe PMC] [Abstract]
  9. "Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria."Hum. Genet. 88:320-324(1992) [PubMed] [Europe PMC] [Abstract]
  10. "Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene."J. Clin. Invest. 89:693-700(1992) [PubMed] [Europe PMC] [Abstract]
  11. "Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene."J. Clin. Invest. 95:905-912(1995) [PubMed] [Europe PMC] [Abstract]
  12. "A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family."Hum. Genet. 97:557-560(1996) [PubMed] [Europe PMC] [Abstract]
  13. "Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family."Am. J. Med. Genet. 70:299-302(1997) [PubMed] [Europe PMC] [Abstract]
  14. "Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation."Blood 92:4053-4058(1998) [PubMed] [Europe PMC] [Abstract]
  15. "C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria."Ann. Hum. Genet. 62:225-230(1998) [PubMed] [Europe PMC] [Abstract]
  16. "Congenital erythropoietic porphyria: a novel homozygous mutation in a Japanese patient."J. Invest. Dermatol. 115:1156-1156(2000) [PubMed] [Europe PMC] [Abstract]
  17. "Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene."Br. J. Haematol. 117:980-987(2002) [PubMed] [Europe PMC] [Abstract]
  18. "Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling."J. Invest. Dermatol. 123:589-591(2004) [PubMed] [Europe PMC] [Abstract]
  19. "ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria."Blood 118:1443-1451(2011) [PubMed] [Europe PMC] [Abstract]
  20. "Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria."Mol. Biol. Rep. 39:6731-6735(2012) [PubMed] [Europe PMC] [Abstract]