KEGG   NETWORK: N00603
Entry
N00603                      Network                                

Name
PPOX deficiency in heme biosynthesis
Definition
Gly -- ALAS1/2 >> ALAD >> HMBS >> UROS >> UROD >> CPOX >> PPOX*
  Expanded
C00037 -- (211,212) >> 210 >> 3145 >> 7390 >> 7389 >> 1371 >> 5498v1
Class
nt06011 Heme biosynthesis
Type
Variant
Pathway
hsa00860  Porphyrin and chlorophyll metabolism
Disease
H01763  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
1371  CPOX; coproporphyrinogen oxidase
5498  PPOX; protoporphyrinogen oxidase
Variant
5498v1 (PPOX*)  PPOX deficiency
Metabolite
C00037  Glycine
Reference
PMID:8852667
  Authors
Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y
  Title
Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.
  Journal
Hum Mol Genet 5:407-10 (1996)
DOI:10.1093/hmg/5.3.407
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