Human GTP cyclohydrolase 1 (GCH1) activation kit by CRISPRa

Specifications

Product Data
Format	3 gRNAs (5ug each), 1 scramble ctrl (10ug) and 1 enhancer vector (10ug)
Symbol	GCH1
Locus ID	2643
Kit Components	GA101762G1, GTP cyclohydrolase 1 gRNA vector 1 in pCas-Guide-GFP-CRISPRa GA101762G2, GTP cyclohydrolase 1 gRNA vector 2 in pCas-Guide-GFP-CRISPRa GA101762G3, GTP cyclohydrolase 1 gRNA vector 3 in pCas-Guide-GFP-CRISPRa 1 CRISPRa-Enhancer vector, SKU GE100056 1 CRISPRa scramble vector, SKU GE100077
Reference Data
RefSeq	NM_000161, NM_001024024, NM_001024070, NM_001024071
Synonyms	DYT5; DYT5a; DYT14; GCH; GTP-CH-1; GTPCH1; HPABH4B
Summary	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. [provided by RefSeq, Jul 2008]

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