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kdsr

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Official Full Name
3-ketodihydrosphingosine reductase
Background
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.
Synonyms
KDSR; 3-ketodihydrosphingosine reductase; follicular lymphoma variant translocation 1 , FVT1; 3 dehydrosphinganine reductase; DHSR; SDR35C1; short chain dehydrogenase/reductase family 35C; member 1; FLJ92680; 3 ketodihydrosphingosine reductase; 3-dehydrosphinganine reductase; FLJ36555; Follicular lymphoma variant translocation 1; Follicular variant translocation protein 1; FVT 1; FVT-1; KDS reductase; KDSR_HUMAN; Short chain dehydrogenase/reductase family 35C member 1; OTTHUMP00000163681; short chain dehydrogenase/reductase family 35C, member 1; FVT1; SDR35C1;KDSR; zgc:55947

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