Anti-GCH1 Antibody Picoband® FITC Conjugated

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.

E.coli-derived human GCH1 recombinant protein (Position: M1-S250) . Human GCH1 shares 89.2% and 92.5% amino acid (aa) sequence identity with mouse and rat GCH1, respectively.

1. Bandmann, O., Nygaard, T. G., Surtees, R., Marsden, C. D., Wood, N. W., Harding, A. E. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum. Molec. Genet. 5: 403-406, 1996. 2. Blau, N., Ichinose, H., Nagatsu, T., Heizmann, C. W., Zacchello, F., Burlina, A. B. A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. J. Pediat. 126: 401-405, 1995. 3. Bode, V. C., McDonald, J. D., Guenet, J.-L., Simon, D. Hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis. Genetics 118: 299-305, 1988.