Gene
nsdhl
- ID
- ZDB-GENE-050417-163
- Name
- NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
- Symbol
- nsdhl Nomenclature History
- Previous Names
-
- zgc:112474 (1)
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Acts upstream of or within response to yeast. Predicted to be located in endoplasmic reticulum membrane and lipid droplet. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in CHILD syndrome and CK syndrome. Orthologous to human NSDHL (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7162719 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Weger et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| CHILD syndrome | Alliance | CHILD syndrome | 308050 |
| CK syndrome | Alliance | CK syndrome | 300831 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | 3-beta hydroxysteroid dehydrogenase/isomerase | Bifunctional lipid A modification and metabolic enzymes | NAD(P)-binding domain superfamily |
|---|---|---|---|---|---|
| UniProtKB:Q566U2 | InterPro | 345 |
Interactions and Pathways
No data available
Plasmids
No data available