View GCH1 gene homepage

General information
Gene symbol GCH1
Gene name GTP cyclohydrolase 1
Chromosome 14
Chromosomal band q22.1-q22.2
Imprinted Unknown
Genomic reference NG_008647.1
Transcript reference NM_000161.2
Associated with diseases DYT-5, ID, GTP cyclohydrolase I deficiency
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013

Links to other resources
HGNC 4193
Entrez Gene 2643
PubMed articles GCH1
OMIM - Gene 600225
OMIM - Diseases DYT-5 (dystonia, type 5, dopa-responsive type (DYT-5))
GTP cyclohydrolase I deficiency

Active transcripts




NCBI ID     

NCBI Protein ID     

00008407 14 transcript variant 1 NM_000161.2 NP_000152.1 0