GCH1 (GTP Cyclohydrolase 1, DYT14, DYT5, GCH, GTP-CH-1, GTPCH1)

Size

£685.00

SKU:: 246518
Purity:: Purified
Storage Conditions:: -20°C
Supplier:: United States Biological
Host:: Mouse
Immunogen:: GCH1 (AAH25415.1, 1aa-250aa) full-length recombinant protein with GST tag. MW of the GST tag alone is 26kD.
Clone:: 1F5
Format:: Supplied as a liquid in PBS, pH 7.4.
Extra Details:: 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 Applications: Suitable for use in Immunofluorescence. Other applications not tested. Recommended Dilution: Optimal dilutions to be determined by the researcher. AA Sequence: MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLMouse monoclonal antibody raised against a full length recombinant GCH1.YSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS Storage and Stability: May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Shipping Conditions:: Blue Ice