Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GCH1 Gene

Aliases for GCH1 Gene

  • GTP Cyclohydrolase 1 2 3 3 5
  • GTP Cyclohydrolase I 3 4
  • Dystonia 14 2 3
  • GTP-CH-I 3 4
  • DYT5 3 4
  • GCH 3 4
  • Guanosine 5-Triphosphate Cyclohydrolase I 3
  • Dopa-Responsive Dystonia 2
  • EC 4
  • GTP-CH-1 3
  • HPABH4B 3
  • GTPCH1 3
  • DYT5a 3
  • DYT14 3

External Ids for GCH1 Gene

Previous HGNC Symbols for GCH1 Gene

  • GCH
  • DYT5
  • DYT14

Previous GeneCards Identifiers for GCH1 Gene

  • GC14M052632
  • GC14M049104
  • GC14M053298
  • GC14M054378
  • GC14M055308
  • GC14M035471

Summaries for GCH1 Gene

Entrez Gene Summary for GCH1 Gene

  • 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]

GeneCards Summary for GCH1 Gene

GCH1 (GTP Cyclohydrolase 1) is a Protein Coding gene. Diseases associated with GCH1 include Hyperphenylalaninemia, Bh4-Deficient, B and Dystonia, Dopa-Responsive. Among its related pathways are Folate biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTP binding.

UniProtKB/Swiss-Prot for GCH1 Gene

  • Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.

Gene Wiki entry for GCH1 Gene

Additional gene information for GCH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCH1 Gene

Genomics for GCH1 Gene

GeneHancer (GH) Regulatory Elements for GCH1 Gene

Promoters and enhancers for GCH1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J054900 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 667.1 +0.9 863 3.2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF143 FOS GCH1 GC14P054902 MAPK1IP1L BMP4 ATG14 FDPSP3
GH14J054870 Enhancer 1.1 Ensembl ENCODE 28.8 +32.2 32184 1 ATF1 FOXA2 SIN3A ZNF2 YY1 ZNF121 GLIS2 KLF7 SP3 SP5 GCH1 MIR4308 RNU6ATAC9P
GH14J055113 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 -221.1 -221098 21.7 PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 ZNF766 FOS LGALS3 LOC105370509 GCH1 FBXO34 DLGAP5 ATG14 ENSG00000259318 MAPK1IP1L GC14M055058 GC14M055059
GH14J055097 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -200.5 -200519 12.7 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 MEF2D GLIS1 LGALS3 LOC105370509 MAPK1IP1L ATG14 SOCS4 GCH1 DLGAP5 FBXO34 ENSG00000259318 GC14M055058
GH14J054818 Enhancer 0.9 ENCODE 16.7 +84.1 84147 1.4 HDAC1 INSM2 KLF17 FEZF1 ZNF2 YY1 ZNF213 ZNF366 ZSCAN5C RCOR1 GCH1 RNU6ATAC9P CGRRF1 ATG14 GC14P054860 PIR45415
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GCH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GCH1 gene promoter:
  • ATF-2
  • c-Jun
  • AP-1

Genomic Locations for GCH1 Gene

Genomic Locations for GCH1 Gene
60,881 bases
Minus strand
60,848 bases
Minus strand

Genomic View for GCH1 Gene

Genes around GCH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCH1 Gene

Proteins for GCH1 Gene

  • Protein details for GCH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    GTP cyclohydrolase 1
    Protein Accession:
    Secondary Accessions:
    • Q6FHY7
    • Q9Y4I8

    Protein attributes for GCH1 Gene

    250 amino acids
    Molecular mass:
    27903 Da
    Quaternary structure:
    • Toroid-shaped homodecamer, composed of a dimer of pentamers. The inactive isoforms also form decamers and may possibly be incorporated into GCH1 heterodecamers, decreasing enzyme stability and activity. Interacts with AHSA1 and GCHFR/GFRP.

    Three dimensional structures from OCA and Proteopedia for GCH1 Gene

    Alternative splice isoforms for GCH1 Gene


neXtProt entry for GCH1 Gene

Post-translational modifications for GCH1 Gene

  • Phosphorylated by casein kinase II at Ser-81 in HAECs during oscillatory shear stress; phosphorylation at Ser-81 results in increased enzyme activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GCH1 Gene

Domains & Families for GCH1 Gene

Gene Families for GCH1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GCH1 Gene

Suggested Antigen Peptide Sequences for GCH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GTP cyclohydrolase I family.
  • Belongs to the GTP cyclohydrolase I family.
genes like me logo Genes that share domains with GCH1: view

Function for GCH1 Gene

Molecular function for GCH1 Gene

UniProtKB/Swiss-Prot Function:
Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + H(2)O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
GTP shows a positive allosteric effect, and tetrahydrobiopterin inhibits the enzyme activity. Zinc is required for catalytic activity. Inhibited by Mg(2+).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=116 uM for GTP {ECO:0000269 PubMed:2500984}; pH dependence: Optimum pH is 7.7 in phosphate buffer. {ECO:0000269 PubMed:2500984}; Temperature dependence: Relatively stable at high temperatures. Retains 50% of its activity after incubation at 70 degrees Celsius for 15 minutes. {ECO:0000269 PubMed:2500984};
UniProtKB/Swiss-Prot Induction:
Up-regulated by IFNG/IFN-gamma, TNF, IL1B/interleukin-1 beta, bacterial lipopolysaccharides (LPS) and phenylalanine, and down-regulated by dibutyryl-cAMP, iloprost and 8-bromo-cGMP in HUVEC cells. Up-regulation of GCH1 expression, in turn, stimulates production of tetrahydrobiopterin, with subsequent elevation of endothelial nitric oxide synthase activity. Cytokine-induced GCH1 up-regulation in HUVECs in response to TNF and IFNG/IFN-gamma involves cooperative activation of both the NF-kappa-B and JAK2/STAT pathways. Also up-regulated by hydrogen peroxide in human aorta endothelial cells (HAECs).
GENATLAS Biochemistry:
GTP cyclohydrolase I,catalyzing the first step of tetrahydrobiopterin (BH4) synthesis

Enzyme Numbers (IUBMB) for GCH1 Gene

Phenotypes From GWAS Catalog for GCH1 Gene

Gene Ontology (GO) - Molecular Function for GCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003924 GTPase activity IDA 2463916
GO:0003934 GTP cyclohydrolase I activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 9092499
genes like me logo Genes that share ontologies with GCH1: view
genes like me logo Genes that share phenotypes with GCH1: view

Human Phenotype Ontology for GCH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GCH1 Gene

MGI Knock Outs for GCH1:
  • Gch1 Gch1<tm1.2Drg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCH1

Clone Products

  • Addgene plasmids for GCH1

No data available for Transcription Factor Targets and HOMER Transcription for GCH1 Gene

Localization for GCH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCH1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GCH1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear membrane (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16778797
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 10907721
GO:0005829 cytosol TAS --
GO:0031410 cytoplasmic vesicle IDA 3318829
genes like me logo Genes that share ontologies with GCH1: view

Pathways & Interactions for GCH1 Gene

genes like me logo Genes that share pathways with GCH1: view

UniProtKB/Swiss-Prot P30793-GCH1_HUMAN

  • Pathway: Cofactor biosynthesis; 7,8-dihydroneopterin triphosphate biosynthesis; 7,8-dihydroneopterin triphosphate from GTP: step 1/1.

Gene Ontology (GO) - Biological Process for GCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006729 tetrahydrobiopterin biosynthetic process IMP,IEA 17101830
GO:0006809 nitric oxide biosynthetic process NAS 9445252
GO:0008152 metabolic process IEA --
GO:0008217 regulation of blood pressure IMP 17717598
GO:0010460 positive regulation of heart rate IEA --
genes like me logo Genes that share ontologies with GCH1: view

No data available for SIGNOR curated interactions for GCH1 Gene

Drugs & Compounds for GCH1 Gene

(30) Drugs for GCH1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved, Investigational Pharma Target 0
Formic acid Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
Guanine Experimental Pharma Target, inhibitor 0
Guanosine triphosphate Experimental Pharma 0

(23) Additional Compounds for GCH1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dihydroneopterin triphosphate
  • 2-amino-4-Hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine triphosphate
  • 6-(L-erythro-1,2-Dihydroxy-3-triphosphooxypropyl)-7,8-dihydropterin
  • 6-(L-erythro-1,2-Dihydroxypropyl 3-triphosphate)-7,8-dihydropterin
  • 6-[(1S,2R)-1,2-Dihydroxy-3-triphosphooxypropyl]-7,8-dihydropterin
  • 2-amino-4-Hydroxy-6-(erythro-1,2,3-trihydroxypropyl)dihydropteridine triphosphoric acid
2,5-Diaminopyrimidine nucleoside triphosphate
  • 2,5-diamino-3,4-dihydro-4-oxo-6-(5-triphosphoribosylamino)Pyrimidine
  • 2,5-Diaminopyrimidine nucleoside triphosphoric acid
Formamidopyrimidine nucleoside triphosphate
genes like me logo Genes that share compounds with GCH1: view

Transcripts for GCH1 Gene

Unigene Clusters for GCH1 Gene

GTP cyclohydrolase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCH1

Clone Products

  • Addgene plasmids for GCH1

Alternative Splicing Database (ASD) splice patterns (SP) for GCH1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - -
SP2: -
SP3: - - -

Relevant External Links for GCH1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GCH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GCH1 Gene

mRNA differential expression in normal tissues according to GTEx for GCH1 Gene

This gene is overexpressed in Liver (x11.5).

Protein differential expression in normal tissues from HIPED for GCH1 Gene

This gene is overexpressed in Islet of Langerhans (25.3), Liver (25.2), and Adrenal (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GCH1 Gene

Protein tissue co-expression partners for GCH1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GCH1 Gene:


SOURCE GeneReport for Unigene cluster for GCH1 Gene:


mRNA Expression by UniProt/SwissProt for GCH1 Gene:

Tissue specificity: In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).

Evidence on tissue expression from TISSUES for GCH1 Gene

  • Nervous system(4.6)
  • Blood(4.5)
  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GCH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • mouth
  • neck
  • pharynx
  • salivary gland
  • esophagus
  • lung
  • rib
  • rib cage
  • kidney
  • stomach
  • pelvis
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
  • wrist
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GCH1: view

Orthologs for GCH1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GCH1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GCH1 34 33
  • 99.87 (n)
(Ornithorhynchus anatinus)
Mammalia GCH1 34
  • 99 (a)
(Canis familiaris)
Mammalia GCH1 34 33
  • 93.71 (n)
(Rattus norvegicus)
Mammalia Gch1 33
  • 90.28 (n)
(Bos Taurus)
Mammalia GCH1 34 33
  • 89.96 (n)
(Mus musculus)
Mammalia Gch1 16 34 33
  • 88.19 (n)
(Monodelphis domestica)
Mammalia GCH1 34
  • 58 (a)
(Gallus gallus)
Aves GCH1 34 33
  • 81.97 (n)
(Anolis carolinensis)
Reptilia GCH1 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gch1 33
  • 73.61 (n)
Str.6098 33
(Danio rerio)
Actinopterygii gch1 34 33
  • 78.17 (n)
gch 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11719 33
fruit fly
(Drosophila melanogaster)
Insecta Pu 34 35 33
  • 69.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006441 33
  • 65.79 (n)
(Caenorhabditis elegans)
Secernentea F32G8.6 35
  • 71 (a)
cat-4 34 33
  • 65.4 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09735g 33
  • 59.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR335C 33
  • 59.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FOL2 34 33
  • 56.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 70 (a)
Cin.7353 33
bread mold
(Neurospora crassa)
Ascomycetes NCU07774 33
  • 61.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC17A5.13 33
  • 56.47 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7353 33
Species where no ortholog for GCH1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCH1 Gene

Gene Tree for GCH1 (if available)
Gene Tree for GCH1 (if available)
Evolutionary constrained regions (ECRs) for GCH1: view image

Paralogs for GCH1 Gene

No data available for Paralogs for GCH1 Gene

Variants for GCH1 Gene

Sequence variations from dbSNP and Humsavar for GCH1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1005125171 uncertain-significance, GTP cyclohydrolase I deficiency, Dystonia, dopa-responsive 54,842,734(-) T/G 3_prime_UTR_variant
rs1014590785 uncertain-significance, Dystonia, dopa-responsive, GTP cyclohydrolase I deficiency 54,902,788(-) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant
rs10151500 benign, GTP cyclohydrolase I deficiency, Dystonia, dopa-responsive 54,842,875(-) C/T 3_prime_UTR_variant
rs1030119701 uncertain-significance, Dystonia, dopa-responsive, GTP cyclohydrolase I deficiency 54,902,769(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1032995478 uncertain-significance, GTP cyclohydrolase I deficiency, Dystonia, dopa-responsive 54,843,302(-) C/A 3_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GCH1 Gene

Variant ID Type Subtype PubMed ID
esv2659466 CNV deletion 23128226
esv2661782 CNV deletion 23128226
esv2675781 CNV deletion 23128226
esv3390715 CNV insertion 20981092
esv3634565 CNV loss 21293372
esv3634566 CNV loss 21293372
nsv1120100 OTHER inversion 24896259
nsv1138302 CNV deletion 24896259
nsv819735 CNV loss 19587683
nsv958750 CNV deletion 24416366

Variation tolerance for GCH1 Gene

Residual Variation Intolerance Score: 46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 8.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GCH1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCH1 Gene

Disorders for GCH1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for GCH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GCH1 in MalaCards View complete list of genes associated with diseases


  • Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910]: A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia. {ECO:0000269 PubMed:7501255, ECO:0000269 PubMed:9667588}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dystonia, dopa-responsive (DRD) [MIM:128230]: A form of dystonia that responds to L-DOPA treatment without side effects. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DRD typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise. {ECO:0000269 PubMed:10076897, ECO:0000269 PubMed:10208576, ECO:0000269 PubMed:10582612, ECO:0000269 PubMed:10825351, ECO:0000269 PubMed:10987649, ECO:0000269 PubMed:11113234, ECO:0000269 PubMed:12391354, ECO:0000269 PubMed:17101830, ECO:0000269 PubMed:7501255, ECO:0000269 PubMed:7874165, ECO:0000269 PubMed:8852666, ECO:0000269 PubMed:8957022, ECO:0000269 PubMed:9120469, ECO:0000269 PubMed:9328244, ECO:0000269 PubMed:9778264}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GCH1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GCH1: view

No data available for Genatlas for GCH1 Gene

Publications for GCH1 Gene

  1. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. (PMID: 7874165) Ichinose H … Tsuji S (Nature genetics 1994) 2 3 4 22 58
  2. A GTP cyclohydrolase 1 genetic variant delays cancer pain. (PMID: 19959292) Lötsch J … Dale O (Pain 2010) 3 22 44 58
  3. Cross-sectional assessment of the consequences of a GTP cyclohydrolase 1 haplotype for specialized tertiary outpatient pain care. (PMID: 19851158) Doehring A … Lötsch J (The Clinical journal of pain 2009) 3 22 44 58
  4. GCH1 in early-onset Parkinson's disease. (PMID: 19735094) Cobb SA … Farrer MJ (Movement disorders : official journal of the Movement Disorder Society 2009) 3 22 44 58
  5. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID: 19491146) Clot F … French Dystonia Network (Brain : a journal of neurology 2009) 3 22 44 58

Products for GCH1 Gene

Sources for GCH1 Gene

Loading form....