Gene Symbol Report 
GCH1
| Approved Symbol |
GCH1 |
|---|---|
| Approved Name |
GTP cyclohydrolase 1 |
| HGNC ID |
HGNC:4193 |
| Previous Symbols & Names |
"dystonia 14", DYT5, DYT14, GCH |
| Synonyms |
"dopa-responsive dystonia", DYT5a, GTPCH1 |
| Locus Type |
gene with protein product |
| Chromosomal Location |
14q22.1-q22.2 |
| SPECIALIST DATABASE |
EC:3.5.4.16 C |
|
|---|---|---|
| HOMOLOGS |
MGI:95675 D Mouse Symbol: Gch1 RGD:61992 D Rat Symbol: Gch1 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:U19523 EMBL-Bank DDBJ C RefSeq:NM_000161 D CCDS:CCDS9720.1 C Vega:OTTHUMG00000029754 C |
|
| GENE RESOURCES |
Entrez Gene:2643 C Ensembl:ENSG00000131979 C UCSC:uc001xbi.1 D Vega:OTTHUMG00000029754 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:P30793 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:GTP Cyclohydrolase I deficiency; BIOMED/BIODEF database C LSDB:BIOMBD C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
BioGPS D GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
