NP_032128.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
27,014 Da
NCBI Official Full Name
GTP cyclohydrolase 1
NCBI Official Synonym Full Names
GTP cyclohydrolase 1
NCBI Protein Information
GTP cyclohydrolase 1; GTP-CH-I; GTP cyclohydrolase I
UniProt Protein Name
GTP cyclohydrolase 1
UniProt Synonym Protein Names
GTP cyclohydrolase I; GTP-CH-I
UniProt Synonym Gene Names
UniProt Entry Name
GCH1_MOUSE
UniProt Comments for GCH1
GCH1: 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. Defects in GCH1 are the cause of GTP cyclohydrolase 1 deficiency (GCH1D); also known as atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency;. GCH1D is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is also responsible for 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 type 5 (dystonia- parkinsonism with diurnal fluctuation). In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia. Defects in GCH1 are the cause of dystonia type 5 (DYT5); also known as progressive dystonia with diurnal fluctuation, autosomal dominant Segawa syndrome or dystonia- parkinsonism with diurnal fluctuation. DYT5 is a DOPA-responsive dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT5 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 excercise. There is a favorable response to L-DOPA without side effects. Belongs to the GTP cyclohydrolase I family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.5.4.16; Cofactor and Vitamin Metabolism - folate biosynthesis; Hydrolase
Cellular Component: nucleoplasm; nuclear membrane; protein complex; cytoplasm; cytoplasmic vesicle; nucleus; cytosol
Molecular Function: GTP cyclohydrolase I activity; protein homodimerization activity; GTP binding; zinc ion binding; hydrolase activity; GTP-dependent protein binding; metal ion binding; nucleotide binding; calcium ion binding; coenzyme binding; catalytic activity
Biological Process: tetrahydrobiopterin biosynthetic process; regulation of lung blood pressure; metabolic process; protein heterooligomerization; dihydrobiopterin metabolic process; positive regulation of nitric-oxide synthase activity; response to pain; dopamine biosynthetic process; pteridine and derivative biosynthetic process; vasodilation; neuromuscular process controlling posture; tetrahydrofolate biosynthetic process; regulation of blood pressure; protein complex assembly; negative regulation of blood pressure; protein homooligomerization
Research Articles on GCH1
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Pathways associated with GCH1 elisa kit
Diseases associated with GCH1 elisa kit
Organs/Tissues associated with GCH1 elisa kit
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