Gene
ebp
- ID
- ZDB-GENE-040718-12
- Name
- EBP cholestenol delta-isomerase
- Symbol
- ebp Nomenclature History
- Previous Names
-
- zgc:91895 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have C-8 sterol isomerase activity and steroid delta-isomerase activity. Predicted to be involved in cholesterol biosynthetic process. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in X-linked chondrodysplasia punctata 2 and chondrodysplasia punctata. Orthologous to human EBP (EBP cholestenol delta-isomerase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Takada et al., 2017
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| MEND syndrome | Alliance | MEND syndrome | 300960 |
| X-linked chondrodysplasia punctata 2 | Alliance | Chondrodysplasia punctata, X-linked dominant | 302960 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Emopamil-binding protein | EXPERA domain |
|---|---|---|---|
|
UniProtKB:Q6DG98
|
232 |
Interactions and Pathways
No data available
Plasmids
No data available