KDSR Antibody

1. mutations in KDSR (3-ketodihydrosphingosine reductase), encoding an enzyme in the ceramide synthesis pathway, lead to a previously undescribed recessive Mendelian disorder in the progressive symmetric erythrokeratoderma spectrum. PMID: 28575652
2. FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane PMID: 15328338
3. Data show that mutations in FVT1 do not contribute significantly to the cause of motor neuron diseases in the human population. PMID: 18395445
4. FVT1 is significantly underexpressed by germinal center-type diffuse large B-cell lymphoma compared with non-germinal center-type DLBCL, follicular lymphoma, & normal tonsil control samples. Increased expression of FVT1 correlated with decreased survival. PMID: 19019774
5. Describes an Ala-175 to Thr mutation in the bovine ortholog that causes spinal muscular atrophy. This residue is conserved in several species, including human. PMID: 17420465

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HGNC: 4021

OMIM: 136440

KEGG: hsa:2531

STRING: 9606.ENSP00000385083

UniGene: Hs.74050