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Entry
N00712                      Network                                

Name
HGD deficiency in tyrosine degradation
Definition
Tyr -- TAT >> HPD >> HGD*
  Expanded
C00082 -- 6898 >> 3242 >> 3081v1
Class
nt06016 Phenylalanine and tyrosine metabolism
Type
Variant
Pathway
hsa00350  Tyrosine metabolism
Disease
H00163  Alkaptonuria
Gene
6898  TAT; tyrosine aminotransferase
3242  HPD; 4-hydroxyphenylpyruvate dioxygenase
3081  HGD; homogentisate 1,2-dioxygenase
Variant
3081v1  HGD deficiency
Metabolite
C00082  L-Tyrosine
Reference
  Authors
Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA
  Title
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
  Journal
Hum Mutat 30:1611-9 (2009)
DOI:10.1002/humu.21120
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