GTP Cyclohydrolase 1, DYT14, DYT5, GCH, GTP-CH-1, GTPCH1
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
Store product at 4°C in the dark. DO NOT FREEZE! Stable at 4°C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: PE conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.
Note: Applications are based on unconjugated antibody.
Immunogen
GCH1 (AAH25415.1, 1aa-250aa) full-length recombinant protein with GST tag. MW of the GST tag alone is 26kD.
Form
Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with R-Phycoerythrin (PE).
Specificity
Recognizes GCH1.
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