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Symbol report for GCH1

Stable symbol

HGNC data for GCH1

Approved symbol
GCH1
Approved name

GTP cyclohydrolase 1

Locus type
gene with protein product
HGNC ID
HGNC:4193
Symbol status
Approved
Previous symbols
GCH
DYT5
DYT14
Previous names
dystonia 14
Alias symbols
GTPCH1
DYT5a
Alias names
dopa-responsive dystonia
GTP cyclohydrolase I
Chromosomal location
14q22.2
Gene groups
Gene resources for GCH1
Ensembl
ENSG00000131979 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
2643 Curated
UCSC
uc059bsc.1
Alliance of Genome Resources
HGNC:4193
Nucleotide resources for GCH1
MANE Select
NM_000161.3
ENST00000491895.7
INSDC
U19523 Curated
ENAGenBankDDBJ
RefSeq
NM_000161
NCBI sequence viewer
Protein resources for GCH1
UniProt/Swiss-Prot
P30793
InterProPDBeReactome
AlphaFold
AF-P30793-F1
Enzyme Commission
3.5.4.16 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for GCH1
Bos taurus
GCH1 VGNC:29286 VGNC
Canis familiaris
GCH1 VGNC:41145 VGNC
Equus caballus
GCH1 VGNC:112366 VGNC
Felis catus
GCH1 VGNC:104393 VGNC
Macaca mulatta
GCH1 VGNC:72900 VGNC
Mus musculus
Gch1 MGI:95675 Curated
Pan troglodytes
GCH1 VGNC:3419 VGNC
Rattus norvegicus
Gch1 RGD:61992
Sus scrofa
GCH1 VGNC:88384 VGNC
Clinical resources for GCH1
OMIM
600225
LSDB
BIOMDBdb: Database of Mutations Causing BH4 Deficiencies and other PND Curated
GenCC
HGNC:4193
MedlinePlus
Search via GCH1
DECIPHER
Search via GCH1
ClinGen
Search via HGNC:4193
Genetic Testing Registry
Search via NCBI Gene ID 2643
ClinVar
Search via NCBI Gene ID 2643
dbVar
Search via NCBI Gene ID 2643
Orphanet
122048
Other resources for GCH1
AmiGO
Search via P30793
QuickGO
Search via P30793
BioGPS
Search via NCBI Gene ID 2643
GeneCards
Search via HGNC:4193
Monarch
Search via HGNC:4193
WikiGenes
Search via NCBI Gene ID 2643
References for GCH1