Gene
dhcr7
- ID
- ZDB-GENE-030912-9
- Name
- 7-dehydrocholesterol reductase
- Symbol
- dhcr7 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor. Acts upstream of or within cholesterol biosynthetic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in alar plate midbrain region; digestive system; optic tectum; optic vesicle; and retina. Used to study Smith-Lemli-Opitz syndrome. Human ortholog(s) of this gene implicated in Smith-Lemli-Opitz syndrome. Orthologous to human DHCR7 (7-dehydrocholesterol reductase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66389 (8 images)
- eu189 (12 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Cook et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Smith-Lemli-Opitz syndrome | Alliance | Smith-Lemli-Opitz syndrome | 270400 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Smith-Lemli-Opitz syndrome | AB/TL + MO1-dhcr7 | control | Cook et al., 2020 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Sterol biosynthesis ERG24/DHCR-like | Sterol reductase, conserved site |
|---|---|---|---|
|
UniProtKB:Q7SXF1
|
478 |
Interactions and Pathways
No data available
Plasmids
No data available