Gene
usp48
- ID
- ZDB-GENE-050522-197
- Name
- ubiquitin specific peptidase 48
- Symbol
- usp48 Nomenclature History
- Previous Names
-
- im:7139343
- zgc:112364 (1)
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable cysteine-type deubiquitinase activity. Acts upstream of or within several processes, including cranial skeletal system development; response to auditory stimulus; and thigmotaxis. Predicted to be active in cytosol and nucleus. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 85. Orthologous to human USP48 (ubiquitin specific peptidase 48).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7139343 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 85 | Alliance | Deafness, autosomal dominant 85 | 620227 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
Interactions and Pathways
No data available
Plasmids
No data available