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.

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Western blotting analysis using GCH1 antibody . Total cell lysates (30 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with GCH1 antibody and HRP-conjugated goat anti-mouse secondary antibody respectively. Image was developed using NaQ™ ECL Substrate Kit .

Western blotting analysis using GCH1 antibody . GCH1 expression in wild-type (WT) and GCH1 shRNA knockdown (KD) HeLa cells with 30 μg of total cell lysates. Hsp90 α serves as a loading control. The blot was incubated with GCH1 antibody and HRP-conjugated goat anti-mouse secondary antibody respectively. Image was developed using FeQ™ ECL Substrate Kit .

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