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Entry
N00709                      Network                                

Name
FAH deficiency in tyrosine degradation
Definition
Tyr -- TAT >> HPD >> HGD >> GSTZ1 >> FAH*
  Expanded
C00082 -- 6898 >> 3242 >> 3081 >> 2954 >> 2184v1
Class
nt06016 Phenylalanine and tyrosine metabolism
Type
Variant
Pathway
hsa00350  Tyrosine metabolism
Disease
H00165  Tyrosinemia
Gene
6898  TAT; tyrosine aminotransferase
3242  HPD; 4-hydroxyphenylpyruvate dioxygenase
3081  HGD; homogentisate 1,2-dioxygenase
2954  GSTZ1; glutathione S-transferase zeta 1
2184  FAH; fumarylacetoacetate hydrolase
Variant
2184v1  FAH deficiency
Metabolite
C00082  L-Tyrosine
Reference
  Authors
Arranz JA, Pinol F, Kozak L, Perez-Cerda C, Cormand B, Ugarte M, Riudor E
  Title
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29  tyrosinemia type I patients.
  Journal
Hum Mutat 20:180-8 (2002)
DOI:10.1002/humu.10084
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