Gene: FDPSP3

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: GCH1

Alternate names for this Gene: DYT14|DYT5|DYT5a|GCH|GTP-CH-1|GTPCH1|HPABH4B

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q22.2

Description of this Gene: GTP cyclohydrolase 1

Type of Gene: protein-coding