KEGG   NETWORK: N00606
Entry
N00606                      Network                                

Name
UROS deficiency in heme biosynthesis
Definition
Gly -- ALAS1/2 >> ALAD >> HMBS >> UROS*
  Expanded
C00037 -- (211,212) >> 210 >> 3145 >> 7390v1
Class
nt06011 Heme biosynthesis
Type
Variant
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
Disease
H01763  Porphyria
H00201  Erythropoietic porphyria
Gene
211  ALAS1; 5'-aminolevulinate synthase 1
212  ALAS2; 5'-aminolevulinate synthase 2
210  ALAD; aminolevulinate dehydratase
3145  HMBS; hydroxymethylbilane synthase
7390  UROS; uroporphyrinogen III synthase
Variant
7390v1 (UROS*)  UROS deficiency
Metabolite
C00037  Glycine
Reference
PMID:1737856
  Authors
Warner CA, Yoo HW, Roberts AG, Desnick RJ
  Title
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
  Journal
J Clin Invest 89:693-700 (1992)
DOI:10.1172/JCI115637
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