Identity
HGNC
LOCATION
18q21.33
LOCUSID
ALIAS
DHSR,EKVP4,FVT1,SDR35C1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2531
MIM: 136440
HGNC: 4021
Ensembl: ENSG00000119537
Variants:
dbSNP: 2531
ClinVar: 2531
TCGA: ENSG00000119537
COSMIC: KDSR
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34686882 | 2022 | Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients. | 2 |
| 34686882 | 2022 | Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients. | 2 |
| 30467204 | 2019 | Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. | 15 |
| 30467204 | 2019 | Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. | 15 |
| 28575652 | 2017 | Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. | 32 |
| 28575652 | 2017 | Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. | 32 |
| 20855565 | 2010 | Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. | 40 |
| 20855565 | 2010 | Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. | 40 |
| 19773279 | 2009 | Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. | 9 |
| 19773279 | 2009 | Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. | 9 |
| 18395445 | 2008 | Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. | 3 |
| 19019774 | 2008 | Expression of the follicular lymphoma variant translocation 1 gene in diffuse large B-cell lymphoma correlates with subtype and clinical outcome. | 4 |
| 18395445 | 2008 | Candidate screening of the bovine and feline spinal muscular atrophy genes reveals no evidence for involvement in human motor neuron disorders. | 3 |
| 19019774 | 2008 | Expression of the follicular lymphoma variant translocation 1 gene in diffuse large B-cell lymphoma correlates with subtype and clinical outcome. | 4 |
| 17420465 | 2007 | A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. | 23 |
Citation
Dessen P
KDSR (3-ketodihydrosphingosine reductase)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/48
