GCH1 Polyclonal Antibody, 50ul Cell Biology Mutations in this gene cause

Mutations in this gene cause epidermolytic palmoplantar keratoderma

It is preferentially associated with mRNAs produced by splicing| including both nuclear mRNAs and newly exported cytoplasmic mRNAs

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to effectively cut and manipulate DNA

while gamma tubulin plays a critical role in the nucleation of microtubule assembly

GCH1 Polyclonal Antibody, 50ul Cell Biology Mutations in this gene causeThis 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.