GCH1 Polyclonal Antibody, 50ul Cell Biology An important paralog of RAB6C

An important paralog of RAB6C is RAB41

Mutations in this gene cause epidermolytic palmoplantar keratoderma

Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene

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

GCH1 Polyclonal Antibody, 50ul Cell Biology An important paralog of RAB6CThis 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.