Gene
zmpste24
- ID
- ZDB-GENE-030131-6312
- Name
- zinc metallopeptidase, STE24 homolog
- Symbol
- zmpste24 Nomenclature History
- Previous Names
-
- fi45a02
- wu:fi45a02
- zgc:55655 (1)
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable metalloendopeptidase activity. Predicted to be involved in CAAX-box protein processing. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in mandibuloacral dysplasia type B lipodystrophy; restrictive dermopathy; and restrictive dermopathy 1. Orthologous to human ZMPSTE24 (zinc metallopeptidase STE24).
- 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
-
- MGC:55655 (1 image)
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 |
|---|---|---|---|
| mandibuloacral dysplasia type B lipodystrophy | Alliance | Mandibuloacral dysplasia with type B lipodystrophy | 608612 |
| restrictive dermopathy 1 | Alliance | Restrictive dermopathy 1 | 275210 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | CAAX prenyl protease 1 | CAAX prenyl protease 1, N-terminal | Peptidase M48 |
|---|---|---|---|---|---|
| UniProtKB:Q802Z1 | InterPro | 468 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
zmpste24-201
(1)
|
Ensembl | 2,722 nt |
Interactions and Pathways
No data available
Plasmids
No data available