Gene
kdsr
- ID
- ZDB-GENE-040426-853
- Name
- 3-ketodihydrosphingosine reductase
- Symbol
- kdsr Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to enable 3-dehydrosphinganine reductase activity and NADPH binding activity. Acts upstream of or within several processes, including intracellular sphingolipid homeostasis; platelet formation; and sphingomyelin biosynthetic process. Predicted to be active in endoplasmic reticulum membrane. Used to study liver disease and thrombocytopenia. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis et progressiva 4 and follicular lymphoma. Orthologous to human KDSR (3-ketodihydrosphingosine reductase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55947 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| erythrokeratodermia variabilis et progressiva 4 | Alliance | Erythrokeratodermia variabilis et progressiva 4 | 617526 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| thrombocytopenia | la2Tg + MO1-kdsr | standard conditions | Bariana et al., 2018 |
| liver disease | kdsrmuz106/muz106 (AB/TU) | standard conditions | Park et al., 2019 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Length |
|---|---|
|
UniProtKB:A0AAR9J7U1
|
359 |
Interactions and Pathways
No data available
Plasmids
No data available