Reactivities: | Human |
Presku: | AAP59618 |
Size: | 100ug |
Weight: | 28kDa |
Gene: | 2643 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1; HPABH4B |