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 associate... See more...

Aliases for GCH1 Gene

Aliases for GCH1 Gene

  • GTP Cyclohydrolase 1 2 3 4 5
  • GTP Cyclohydrolase I 3 4
  • Dystonia 14 2 3
  • EC 3.5.4.16 4 54
  • GTP-CH-I 3 4
  • DYT5 3 4
  • GCH 3 4
  • Guanosine 5'-Triphosphate Cyclohydrolase I 3
  • Dopa-Responsive Dystonia 2
  • 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 Dystonia, Dopa-Responsive and Hyperphenylalaninemia, Bh4-Deficient, B. Among its related pathways are eNOS activation and regulation and Metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTP binding.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for GCH1 Gene

Genomics for GCH1 Gene

GeneHancer (GH) Regulatory Elements for GCH1 Gene


GeneHancers around GCH1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for GCH1 Gene

Genomic Locations for GCH1 Gene
chr14:54,842,005-54,902,885
(GRCh38/hg38)
Size:
60,881 bases
Orientation:
Minus strand
chr14:55,308,723-55,369,570
(GRCh37/hg19)
Size:
60,848 bases
Orientation:
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:
    P30793-GCH1_HUMAN
    Recommended name:
    GTP cyclohydrolase 1
    Protein Accession:
    P30793
    Secondary Accessions:
    • Q6FHY7
    • Q9Y4I8

    Protein attributes for GCH1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for GCH1 Gene

Selected DME Specific Peptides for GCH1 Gene

P30793:
  • CEHHLVPF
  • NSKTVTSTMLGVFR
  • FDEDHDE
  • SMCEHHLVP
  • HMCMVMRGV
  • SKLARIV
  • GLSKLAR
  • QVQERLT

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

Domains & Families for GCH1 Gene

Gene Families for GCH1 Gene

HGNC:
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:
  • GTP cyclohydrolase I (GCH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30793

UniProtKB/Swiss-Prot:

GCH1_HUMAN :
  • Belongs to the GTP cyclohydrolase I family.
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:
Reaction=GTP + H2O = 7,8-dihydroneopterin 3'-triphosphate + formate + H(+); Xref=Rhea:RHEA:17473, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15740, ChEBI:CHEBI:37565, ChEBI:CHEBI:58462; EC=3.5.4.16; Evidence={ECO:0000269 PubMed:16778797, ECO:0000269 PubMed:2463916, ECO:0000269 PubMed:3753653};.
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 IDA,IBA 7730309
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

COMPARTMENTS
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 IDA,IEA 16778797
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,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.

SIGNOR curated interactions for GCH1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GCH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006729 tetrahydrobiopterin biosynthetic process IMP,IBA 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

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
Water Approved Pharma 0
Guanine Experimental Pharma Target, inhibitor 0
Formic acid Experimental, Investigational Pharma 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
20574-65-6
2,5-Diamino-6-(5'-triphosphoryl-3',4'-trihydroxy-2'-oxopentyl)-amino-4-oxopyrimidine
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

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: - - -
SP4:

Relevant External Links for GCH1 Gene

GeneLoc Exon Structure for
GCH1
ECgene alternative splicing isoforms for
GCH1

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:

GCH1

SOURCE GeneReport for Unigene cluster for GCH1 Gene:

Hs.86724

mRNA Expression by UniProt/SwissProt for GCH1 Gene:

P30793-GCH1_HUMAN
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
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • mouth
  • neck
  • pharynx
  • salivary gland
Thorax:
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
  • stomach
Pelvis:
  • pelvis
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
  • wrist
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia GCH1 33 32
  • 99.87 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCH1 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GCH1 33 32
  • 93.71 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gch1 32
  • 90.28 (n)
cow
(Bos Taurus)
Mammalia GCH1 33 32
  • 89.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gch1 17 33 32
  • 88.19 (n)
oppossum
(Monodelphis domestica)
Mammalia GCH1 33
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCH1 33 32
  • 81.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCH1 33
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gch1 32
  • 73.61 (n)
Str.6098 32
zebrafish
(Danio rerio)
Actinopterygii gch1 33 32
  • 78.17 (n)
OneToOne
gch 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11719 32
fruit fly
(Drosophila melanogaster)
Insecta Pu 33 34 32
  • 69.03 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006441 32
  • 65.79 (n)
worm
(Caenorhabditis elegans)
Secernentea F32G8.6 34
  • 71 (a)
cat-4 33 32
  • 65.4 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09735g 32
  • 59.28 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR335C 32
  • 59.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FOL2 33 32
  • 56.62 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 70 (a)
OneToOne
Cin.7353 32
bread mold
(Neurospora crassa)
Ascomycetes NCU07774 32
  • 61.61 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC17A5.13 32
  • 56.47 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7353 32
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

ENSEMBL:
Gene Tree for GCH1 (if available)
TreeFam:
Gene Tree for GCH1 (if available)
Aminode:
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
rs10151500 benign, GTP cyclohydrolase I deficiency, Dystonia, dopa-responsive 54,842,875(-) C/T 3_prime_UTR_variant
rs104894433 pathogenic, Dystonia 5, Dopa-responsive type, Dystonia, dopa-responsive (DRD) [MIM:128230] 54,902,402(-) G/A/C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant
rs104894434 pathogenic, Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive, Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] 54,844,108(-) A/G coding_sequence_variant, intron_variant, missense_variant
rs104894435 pathogenic, likely-pathogenic, Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive, Dystonia 5, Dopa-responsive type, GTP cyclohydrolase I deficiency, Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] 54,902,341(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs104894436 pathogenic, Dystonia 5, Dopa-responsive type 54,845,808(-) C/A coding_sequence_variant, missense_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)
GCH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCH1

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

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

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

UniProtKB/Swiss-Prot

GCH1_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 56
  2. A GTP cyclohydrolase 1 genetic variant delays cancer pain. (PMID: 19959292) Lötsch J … Dale O (Pain 2010) 3 23 43 56
  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 23 43 56
  4. 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 23 43 56
  5. GCH1 in early-onset Parkinson's disease. (PMID: 19735094) Cobb SA … Farrer MJ (Movement disorders : official journal of the Movement Disorder Society 2009) 3 23 43 56

Products for GCH1 Gene

Sources for GCH1 Gene