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. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| KDSR-20-RE | 20 (40 μL) | 200 μL |  |
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| KDSR-20-OR | 20 (40 μL) | 200 μL |  |
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| KDSR-20-GO | 20 (40 μL) | 200 μL |  |
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| KDSR-20-GR | 20 (40 μL) | 200 μL |  |
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| KDSR-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2008]
Gene Symbol : KDSR
Gene Name : 3-ketodihydrosphingosine reductase
Chromosome : CHR 18: 633,672,72-633,277,35
Locus : 18q21.33
Alt. Genes : OPTN
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