KEGG   NETWORK: N00605
Entry
N00605                      Network                                

Name
UROD deficiency in heme biosynthesis
Definition
Gly -- ALAS1/2 >> ALAD >> HMBS >> UROS >> UROD*
  Expanded
C00037 -- (211,212) >> 210 >> 3145 >> 7390 >> 7389v1
Class
nt06011 Heme biosynthesis
Type
Variant
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
Disease
H01763  Porphyria
H00201  Erythropoietic porphyria
H00202  Hepatic 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
7389  UROD; uroporphyrinogen decarboxylase
Variant
7389v1 (UROD*)  UROD deficiency
Metabolite
C00037  Glycine
Reference
PMID:8644733
  Authors
Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taieb A, Topi G, D'Alessandro L, de Verneuil H
  Title
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
  Journal
Am J Hum Genet 58:712-21 (1996)
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