Anti-GCH1 (GTP Cyclohydrolase 1, GTP Cyclohydrolase I, GTP-CH-I, DYT5, GCH)

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. Applications: Suitable for use in ELISA and Western Blot. Other applications not tested. Recommended Dilution: ELISA: 1:16,000, Western Blot: 0.5-1.5ug/ml, observed in human tonsil, lymph node and thymus lysates. on ~37kD bands, Optimal dilutions to be determined by the researcher. 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 at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.