Name

GCH1 Gene

GTP cyclohydrolase 1

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. [provided by RefSeq, Jul 2008]

gch1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term gch1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

GCH1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for GCH1 from the Pathway Commons Protein-Protein Interactions dataset.