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 enable C-8 sterol isomerase activity and steroid delta-isomerase activity. Predicted to be involved in cholesterol biosynthetic process. Predicted to act upstream of or within sterol metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in MEND syndrome; 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