KEGG   NETWORK: N00602
Entry
N00602                      Network                                

Name
FECH deficiency in heme biosynthesis
Definition
Gly -- ALAS1/2 >> ALAD >> HMBS >> UROS >> UROD >> CPOX >> PPOX >> FECH*
  Expanded
C00037 -- (211,212) >> 210 >> 3145 >> 7390 >> 7389 >> 1371 >> 5498 >> 2235v1
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
7389  UROD; uroporphyrinogen decarboxylase
1371  CPOX; coproporphyrinogen oxidase
5498  PPOX; protoporphyrinogen oxidase
2235  FECH; ferrochelatase
Variant
2235v1 (FECH*)  FECH deficiency
Metabolite
C00037  Glycine
Reference
PMID:7910885
  Authors
Sarkany RP, Alexander GJ, Cox TM
  Title
Recessive inheritance of erythropoietic protoporphyria with liver failure.
  Journal
Lancet 343:1394-6 (1994)
DOI:10.1016/S0140-6736(94)92525-9
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