Corporate Headquarters
Vector Laboratories, Inc.
6737 Mowry Ave
Newark, CA 94560
United States
GTPCH1 / GCH1 is 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.
Gene Name: | GTP cyclohydrolase 1 |
Synonyms: | GCH1, DYT14, DYT5a, Dystonia 14, GTP cyclohydrolase 1, GTP cyclohydrolase I, GTPCH1, HPABH4B, GTP-CH-1, DYT5, GCH, GTP-CH-I |
Target Sequences: | NM_000161 NP_000152.1 P30793 |
If you do not find the reagent or information you require, please contact Customer.Support@LSBio.com to inquire about additional products in development.