NETWORK: N00704
Entry
N00704 Network
Name
GCH1 deficiency in tetrahydrobiopterin biosynthesis
Definition
GTP -- GCH1*
Expanded
C00044 -- 2643v1
Class
nt06016
Phenylalanine and tyrosine metabolism
Type
Variant
Pathway
hsa00790
Folate biosynthesis
Disease
H00167
Phenylketonuria
Gene
2643
GCH1; GTP cyclohydrolase 1
Variant
2643v1
GCH1 deficiency
Metabolite
C00044
GTP
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
