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 have 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Predicted to be involved in tetrahydrobiopterin biosynthetic process. Is expressed in lens; liver; and solid lens vesicle. Orthologous to human PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pcbd1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Hyperphenylalaninemia, BH4-deficient, D 264070
Associated With pcbd1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR001533 Pterin 4 alpha carbinolamine dehydratase
Homologous_superfamily IPR036428 Pterin 4 alpha carbinolamine dehydratase superfamily
Domain Details Per Protein
Protein Length Pterin 4 alpha carbinolamine dehydratase Pterin 4 alpha carbinolamine dehydratase superfamily
UniProtKB:Q6PBI6 102
UniProtKB:Q8QGE6 102
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations