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Invitrogen
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Immunogen sequence: HLRPKQKPKNS KHCRDAKFEG TRIPHLVKKR RYQKQDSENK SEAKEQSNDD YVLEKLFKKS VGVHSVMKHD AIMDGASPD
Highest antigen sequence identity to the following orthologs - mouse 76%, rat 75%.
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。