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
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
BH4-deficient hyperphenylalaninemia D Alliance Hyperphenylalaninemia, BH4-deficient, D 264070
1 - 1 of 1
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
1 - 2 of 2
Domain Details Per Protein
Protein Additional Resources Length Pterin 4 alpha carbinolamine dehydratase Pterin 4 alpha carbinolamine dehydratase superfamily
UniProtKB:Q6PBI6 InterPro 102
1 - 1 of 1
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA pcbd1-201 (1) Ensembl 820 nt
1 - 1 of 1
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