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

Size

£685.00

SKU:: 127227
Purity:: Purified
Storage Conditions:: -20°C
Supplier:: United States Biological
Host:: Mouse
Immunogen:: Partial recombinant protein corresponding to aa84-172 from human GCH1 (NP_000152) with GST tag. MW of the GST tag alone is 26kD.
Clone:: 4A12
Format:: Supplied as a liquid in PBS, pH 7.2.
Extra Details:: 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, Western Blot, Immunoprecipitation and Immunohistochemistry. Other applications not tested. Recommended Dilutions: Immunohistochemistry (FFPE): 3ug/ml Optimal dilutions to be determined by the researcher. Amino Acid Sequence: ENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIV 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 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Shipping Conditions:: Blue Ice