Gene
pax1b
- ID
- ZDB-GENE-060503-372
- Name
- paired box 1b
- Symbol
- pax1b Nomenclature History
- Previous Names
-
- si:dkeyp-50f5.1
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have DNA binding activity and DNA-binding transcription factor activity. Involved in embryonic skeletal system development and pectoral fin development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in branchiootorenal syndrome. Is expressed in axial blood vessel; fin bud; notochord; pharynx; and somite. Orthologous to human PAX1 (paired box 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Otofaciocervical syndrome 2 with T-cell deficiency | 615560 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Homedomain-like superfamily | Paired DNA-binding domain | Paired domain | PAX family | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:B0S7C8
|
340 |
Interactions and Pathways
No data available
Plasmids