Gene
pcbd1
- ID
- ZDB-GENE-040426-1787
- Name
- pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
- Symbol
- pcbd1 Nomenclature History
- Previous Names
-
- pcbd
- zgc:73389
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Predicted to act upstream of or within tetrahydrobiopterin biosynthetic process. Predicted to be located in cytoplasm and nucleus. Is expressed in lens; liver; and solid lens vesicle. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia D. Orthologous to human PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73389 (6 images)
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 D | Alliance | Hyperphenylalaninemia, BH4-deficient, D | 264070 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Pterin 4 alpha carbinolamine dehydratase | Pterin 4 alpha carbinolamine dehydratase superfamily |
|---|---|---|---|---|
| UniProtKB:Q6PBI6 | InterPro | 102 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available