Non disponible en dehors du Royaume-Uni et de l'Irlande
General description
The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. (provided by RefSeq)
Immunogen
PTS (NP_000308.1, 1 a.a. ~ 145 a.a) full-length human protein.SequenceMSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHNYKVVVTVHGEIDPATGMVMNLADLKKYMEEAIMQPLDHKNLDMDVPYFADVVSTTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE
Physical form
Solution in phosphate buffered saline, pH 7.4
Ce produit répond aux critères suivants pour être admissible aux récompenses suivantes :