ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Predicted to be involved in tetrahydrobiopterin biosynthetic process. Predicted to be located in cytoplasm and nucleus. Predicted to be active in cytosol and nucleoplasm. 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 | ||
| UniProtKB:A0AC58H0L5 | InterPro | 93 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers