GCH1 sirna

GCH1 siRNA (Human)

Cat. Num. AAA8206270

• Gene Names: GCH1; GCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: GCH1; GCH1 siRNA (Human); DYT5; GCH; GTP cyclohydrolase 1; GTP cyclohydrolase I; GTP-CH-I; GCH1 sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: GCH1 siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 233

• Applicable Applications for GCH1 sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human GCH1 gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for GCH1 sirna

siRNA to inhibit GCH1 expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 4503949
• NCBI GeneID: 2643
• NCBI Accession #: NP_000152.1
• NCBI GenBank Nucleotide #: NM_000161.2
• UniProt Accession #: P30793; Q6FHY7; Q9Y4I8
• Molecular Weight: 25,775 Da
• NCBI Official Full Name: GTP cyclohydrolase 1 isoform 1
• NCBI Official Synonym Full Names: GTP cyclohydrolase 1
• NCBI Official Symbol: GCH1
• NCBI Official Synonym Symbols: GCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1
• NCBI Protein Information: GTP cyclohydrolase 1
• UniProt Protein Name: GTP cyclohydrolase 1
• Protein Family: GTP cyclohydrolase
• UniProt Gene Name: GCH1
• UniProt Synonym Gene Names: DYT5; GCH; GTP-CH-I
• UniProt Entry Name: GCH1_HUMAN

NCBI Description

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]

Uniprot Description

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: Cofactor and Vitamin Metabolism - folate biosynthesis; Hydrolase; EC 3.5.4.16

Chromosomal Location of Human Ortholog: 14q22.1-q22.2

Cellular Component: nucleoplasm; nuclear membrane; protein complex; cytoplasm; cytoplasmic vesicle; nucleus; cytosol

Molecular Function: GTP cyclohydrolase I activity; protein binding; protein homodimerization activity; GTP binding; zinc ion binding; GTP-dependent protein binding; calcium ion binding; coenzyme binding

Biological Process: tetrahydrobiopterin biosynthetic process; regulation of lung blood pressure; metabolic process; protein heterooligomerization; positive regulation of nitric-oxide synthase activity; response to lipopolysaccharide; response to pain; dopamine biosynthetic process; pteridine and derivative biosynthetic process; vasodilation; nitric oxide metabolic process; neuromuscular process controlling posture; tetrahydrofolate biosynthetic process; regulation of blood pressure; regulation of nitric-oxide synthase activity; negative regulation of blood pressure; nitric oxide biosynthetic process; protein homooligomerization

Disease: Hyperphenylalaninemia, Bh4-deficient, B; Dystonia, Dopa-responsive