Gene Report

Basic Info
Approved Symbol GCH1
Previous Symbol GCH, DYT5, DYT14
Symbol Alias GTPCH1, DYT5a
Approved Name GTP cyclohydrolase 1
Previous Name dystonia 14
Name Alias dopa-responsive dystonia
Location 14q22.1-q22.2
Position chr14:54842008-54902852, -1
External Links HGNC: 4193
Entrez Gene: 2643
Ensembl: ENSG00000131979
UCSC: uc001xbi.1
No. of Studies 2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ? NO
Overlap with MDD? YES
Gene related studies (count: 2)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Kishi, T.,2012(b) SNP: rs3783641, rs8007267, rs841
Haplotype: rs8007267 - rs378364 - rs841(C-T-C), rs8007267 - rs378364 - rs841(C-T-T), rs8007267 - rs378364 - rs841(T-A-C)
Results suggest that GCH1 may predict response to SSRI in MDD in the Japanese population. Nevertheless, a replication study using larger samples may be required for conclusive results, since our sample size was small. Negative Comment on Study
Kealey, C.,2005 Other variant: GCH1_-959G/A It provides preliminary support for an association between a novel GCHI variant and BPD within the Irish population. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 37)

GO terms by PBA (count: 2)

GO terms by database search (count: 35)

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Related other genetic factors
Gene related SNPs (count: 25)

Literature-origin SNPs (count: 3)

LD-proxies (count: 22)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Gene related regions (count: 5)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Overlap with MDD from candidate gene intersection analysis (count: 0)

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Region: chr14:54842008..54902852 View in gBrowse
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