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

Suitable for use in Immunofluorescence. Other applications not tested.

Optimal dilutions to be determined by the researcher.

MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLMouse monoclonal antibody raised against a full length recombinant GCH1.YSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS

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: MaxLight™550 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.

GCH1 (AAH25415.1, 1aa-250aa) full-length recombinant protein with GST tag. MW of the GST tag alone is 26kD.

Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with MaxLight™550.

Purified

Recognizes GCH1.