Gene
pkp1b
- ID
- ZDB-GENE-030131-417
- Name
- plakophilin 1b
- Symbol
- pkp1b Nomenclature History
- Previous Names
-
- pkp1
- fb30d08
- wu:fb30d08
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have cadherin binding activity. Predicted to be involved in cell-cell adhesion and cell-cell junction assembly. Predicted to localize to several cellular components, including adherens junction; nucleus; and plasma membrane. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Is expressed in EVL; otic vesicle; peripheral olfactory organ; and pharyngeal arch. Orthologous to human PKP1 (plakophilin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152279 (13 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 |
|---|---|---|---|
| Ectodermal dysplasia/skin fragility syndrome | 604536 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Armadillo | Armadillo-like helical | Armadillo-type fold | Plakophilin/Delta catenin |
|---|---|---|---|---|---|
|
UniProtKB:E7FBR0
|
736 |
Interactions and Pathways
No data available
Plasmids
No data available