GCH1 GTP cyclohydrolase 1
Gene ID: 2643, updated on 18-Sep-2024Gene type: protein coding
Also known as: GCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1
- See all available tests in GTR for this gene
- Go to complete Gene record for GCH1
- Go to Variation Viewer for GCH1 variants
Summary
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Dystonia 5 | See labs |
| GTP cyclohydrolase I deficiency with hyperphenylalaninemia | See labs |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available | |
| Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-02-14) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-02-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 14q22.2
- Sequence:
- Chromosome: 14; NC_000014.9 (54842017..54902826, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GCH1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BIOMDBdb : Database of Mutations Causing BH4 Deficiencies and other PND
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GCH1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.