WormBase Tree Display for Gene: HGNC:9689
expand all nodes | collapse all nodes | view schema
HGNC:9689 | Identity | Name | CGC_name | pts | Inferred_automatically | AGR_import |
---|---|---|---|---|---|---|
Other_name | RGD:68525 | |||||
6-pyruvoyl tetrahydrobiopterin synthase | ||||||
6-pyruvoyl-tetrahydropterin synthase | ||||||
FLJ97081 | ||||||
PTP synthase | ||||||
PTPS | ||||||
truncated 6-pyruvoyltetrahydropterin synthase | ||||||
Public_name | pts | |||||
DB_info | Database | HGNC | id | 9689 | ||
AGR | cURI | HGNC:9689 | ||||
EnsEMBL | ENSEMBL_geneID | ENSG00000150787 | ||||
UniProt | UniProt_AC | Q03393 | ||||
OMIM | gene | 612719 | ||||
DO | id | DOID:0090106 | ||||
DOID:9281 | ||||||
Species | Homo sapiens | |||||
Status | Live | |||||
Gene_info | Biotype | SO:0001217 | ||||
Ortholog | WBGene00015010 | Caenorhabditis elegans | From_analysis | EnsEMBL-Compara | ||
Hieranoid | ||||||
Inparanoid | ||||||
OMA | ||||||
OrthoFinder | ||||||
OrthoInspector | ||||||
Panther | ||||||
PhylomeDB | ||||||
SonicParanoid | ||||||
Structured_description | Automated_description | The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008] | Inferred_automatically | AGR_import |