KEGG   VARIANT: 2643v1
Entry
2643v1                      Variant                                
Name
GCH1 deficiency
Type
Loss of function
Gene
GCH1  GTP cyclohydrolase 1 [KO:K01495]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600225
Network
nt06016  Phenylalanine and tyrosine metabolism
nt06028  Dopamine and serotonin metabolism
Disease
H00167  Phenylketonuria
H02557  Dopa-responsive dystonia
Reference
PMID:7730309
  Authors
Ichinose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina A, Rouse B, Matalon R, Fujita K, Nagatsu T
  Title
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency.
  Journal
J Biol Chem 270:10062-71 (1995)
DOI:10.1074/jbc.270.17.10062
LinkDB

DBGET integrated database retrieval system