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 several processes, including behavioral fear response; cholesterol biosynthetic process; and neuron cellular homeostasis. 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; nervous system; and optic vesicle. Used to study Smith-Lemli-Opitz syndrome. Human ortholog(s) of this gene implicated in Behcet's disease and Smith-Lemli-Opitz syndrome. Orthologous to human DHCR7 (7-dehydrocholesterol reductase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66389 (8 images)
- eu189 (12 images)
Wild Type Expression Summary
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 |
| Smith-Lemli-Opitz syndrome | dhcr7oi14/oi14 | standard conditions | Miyazaki et al., 2024 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Sterol biosynthesis ERG24/DHCR-like | Sterol reductase, conserved site |
|---|---|---|---|---|
| UniProtKB:Q7SXF1 | InterPro | 478 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available