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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.
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Protein Aliases: 3-dehydrosphinganine reductase; 3-ketodihydrosphingosine reductase; follicular lymphoma variant translocation 1; Follicular variant translocation protein 1; Follicular variant translocation protein 1 homolog; FVT-1; KDS reductase; Short chain dehydrogenase/reductase family 35C member 1; short chain dehydrogenase/reductase family 35C, member 1
Gene Aliases: 6330410P18Rik; 9430079B08Rik; DHSR; FVT1; KDSR; SDR35C1
UniProt ID: (Human) Q06136, (Mouse) Q6GV12
Entrez Gene ID: (Human) 2531, (Mouse) 70750, (Rat) 360833
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