|Application ||WB, E|
|Other Accession||NP_001019242, 2643, 14528 (mouse), 29244 (rat)|
|Calculated MW||27903 Da|
|Other Names||GTP cyclohydrolase 1, 188.8.131.52, GTP cyclohydrolase I, GTP-CH-I, GCH1, DYT5, GCH|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-GCH1 Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|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.|
|Cellular Location||Cytoplasm. Nucleus|
|Tissue Location||In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).|
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Provided below are standard protocols that you may find useful for product applications.
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.
Different SNP combinations in the GCH1 gene and use of labor analgesia. Dabo F, et al. Mol Pain, 2010 Jul 15. PMID 20633294.
Variation at the NFATC2 Locus Increases the Risk of Thiazolinedinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study. Bailey SD, et al. Diabetes Care, 2010 Jul 13. PMID 20628086.
Exploring epistatic relationships of NO biosynthesis pathway genes in susceptibility to CHD. Tu YC, et al. Acta Pharmacol Sin, 2010 Jul. PMID 20581851.
Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia. Cao L, et al. Mov Disord, 2010 Apr 30. PMID 20437540.
Cardiac myocyte-specific overexpression of human GTP cyclohydrolase I protects against acute cardiac allograft rejection. Ionova IA, et al. Am J Physiol Heart Circ Physiol, 2010 Jul. PMID 20418482.
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