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 act upstream of or within proteolysis. 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 lethal restrictive dermopathy and mandibuloacral dysplasia type B lipodystrophy. 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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
zmpste24-201
(1)
|
Ensembl | 2,722 nt |
Interactions and Pathways
No data available
Plasmids
No data available