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The protein encoded by KDSR catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine.
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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.
FVT-1 is a mammalian 3-ketodihydrosphingosine reductase with an active site that faces the cytosolic side of the endoplasmic reticulum membrane
Data show that mutations in FVT1 do not contribute significantly to the cause of motor neuron diseases in the human population.
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.
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.
G-to-A missense mutation in FVT1, encoding 3-ketodihydrosphingosine reductase, is a strong candidate for causality of spinal muscular atrophy in cattle.
The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy.
follicular lymphoma variant translocation 1
, 3-dehydrosphinganine reductase
, KDS reductase
, follicular variant translocation protein 1
, short chain dehydrogenase/reductase family 35C, member 1
, follicular variant translocation protein 1 homolog