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GCH1 Polyclonal Antibody, 100ul Reservoirs this gene represents the first

SKU: 41131063908

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GCH1 Polyclonal Antibody, 100ul Reservoirs this gene represents the firstThis 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.

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Description

this gene represents the first example of -1 FS in a eukaryotic cellular gene

KHSRP encodes a multifunctional RNA-binding protein

together with LMNA

It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid

GCH1 Polyclonal Antibody, 100ul Reservoirs this gene represents the firstThis 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.

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