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This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin 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.
4732403I04; ARMD5; ATP-dependent helicase ERCC6; C130058G22Rik; Chimeric CSB-PGBD3 protein; Chimeric ERCC6-PGBD3 protein; CKN2; Cockayne syndrome group B protein; cockayne syndrome protein CSB; COFS; COFS1; CS group B correcting; CSB; DNA excision repair protein ERCC-6; DNA excision repair protein ERCC-6; ERCC6-PGBD3 fusion protein; ERCC excision repair 6, chromatin remodeling factor; ERCC6; ERCC6-PGBD3 fusion protein (isoform 1); excision repair cross-complementation group 6; excision repair cross-complementing rodent repair deficiency, complementation group 6; POF11; RAD26; UVSS1
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