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 have metalloendopeptidase activity. Predicted to be involved in CAAX-box protein processing. Predicted to localize to integral component of endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in connective tissue disease and lethal restrictive dermopathy. 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 | Length | CAAX prenyl protease 1 | CAAX prenyl protease 1, N-terminal | Peptidase M48 |
|---|---|---|---|---|
|
UniProtKB:Q802Z1
|
468 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
zmpste24-201
(1)
|
Havana | 2722 nt |
Interactions and Pathways
No data available
Plasmids
No data available