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: 1:16,000Western Blot: 0.5-1.5ug/ml, observed in human tonsil, lymph node and thymus lysates.
on ~37kD bandsOptimal 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.
仕様
Size：100ug
Host：goat
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in Tris saline, 0.02% sodium azide, pH 7.3, 0.5% BSA.
Specificity：Recognizes human GCH1. Species sequence homology: Mouse and rat.
Isotype：IgG
Calc Applications Abbrev：E WB
Calc Crossreactivity：Hu Mo Rt
Immunogen：Synthetic peptide corresponding to C-GKVHIGYLPNKQ, from human GCH1, at the internal region of the protein (NP_000152.1, NP_001019195.1).
