KEGG   NETWORK: N00604
Entry
N00604                      Network                                

Name
CPOX deficiency in heme biosynthesis
Definition
Gly -- ALAS1/2 >> ALAD >> HMBS >> UROS >> UROD >> CPOX*
  Expanded
C00037 -- (211,212) >> 210 >> 3145 >> 7390 >> 7389 >> 1371v1
Class
nt06011 Heme biosynthesis
Type
Variant
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
Variant
1371v1 (CPOX*)  CPOX deficiency
Metabolite
C00037  Glycine
Reference
  Authors
Lamoril J, Puy H, Whatley SD, Martin C, Woolf JR, Da Silva V, Deybach JC, Elder GH
  Title
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.
  Journal
Am J Hum Genet 68:1130-8 (2001)
DOI:10.1086/320118
LinkDB

DBGET integrated database retrieval system