Gene
srd5a3
- ID
- ZDB-GENE-030131-7915
- Name
- steroid 5 alpha-reductase 3
- Symbol
- srd5a3 Nomenclature History
- Previous Names
-
- srd5a2l (1)
- fj40g12
- si:ch211-278f21.3
- wu:fj40g12
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have 3-oxo-5-alpha-steroid 4-dehydrogenase activity and oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor. Predicted to be involved in dolichol biosynthetic process; dolichol-linked oligosaccharide biosynthetic process; and polyprenol catabolic process. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in Kahrizi syndrome and congenital disorder of glycosylation Iq. Orthologous to human SRD5A3 (steroid 5 alpha-reductase 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6893558 (1 image)
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 |
|---|---|---|---|
| congenital disorder of glycosylation Iq | Alliance | Congenital disorder of glycosylation, type Iq | 612379 |
| Kahrizi syndrome | Alliance | Kahrizi syndrome | 612713 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal | Polyprenol reductase |
|---|---|---|---|
|
UniProtKB:Q5RIU9
|
309 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
srd5a3-201
(1)
|
Havana | 1015 nt |
Interactions and Pathways
No data available
Plasmids
No data available