Gene
pts
- ID
- ZDB-GENE-070615-3
- Name
- 6-pyruvoyltetrahydropterin synthase
- Symbol
- pts Nomenclature History
- Previous Names
-
- zgc:162276
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have 6-pyruvoyltetrahydropterin synthase activity and metal ion binding activity. Predicted to be involved in tetrahydrobiopterin biosynthetic process. Human ortholog(s) of this gene implicated in Bh4-deficient hyperphenylalaninemia A and phenylketonuria. Orthologous to human PTS (6-pyruvoyltetrahydropterin synthase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| BH4-deficient hyperphenylalaninemia A | Alliance | Hyperphenylalaninemia, BH4-deficient, A | 261640 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR022469 | 6-pyruvoyl tetrahydropterin synthase, histidine active site |
| Active_site | IPR022470 | 6-pyruvoyl tetrahydropterin synthase, cysteine active site |
| Family | IPR007115 | 6-pyruvoyl tetrahydropterin synthase/QueD family |
| Homologous_superfamily | IPR038418 | 6-pyruvoyl tetrahydropterin synthase/QueD superfamily |
Domain Details Per Protein
| Protein | Length | 6-pyruvoyl tetrahydropterin synthase, cysteine active site | 6-pyruvoyl tetrahydropterin synthase, histidine active site | 6-pyruvoyl tetrahydropterin synthase/QueD family | 6-pyruvoyl tetrahydropterin synthase/QueD superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A5PKS5
|
139 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available