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FVT1 / KDSR 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.
Gene Name: | 3-ketodihydrosphingosine reductase |
Synonyms: | KDSR, 3-dehydrosphinganine reductase, DHSR, FVT-1, FVT1, KDS reductase, SDR35C1 |
Target Sequences: | NM_002035 NP_002026.1 Q06136 |
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