| Protein Name | 3-ketodihydrosphingosine reductase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 2531 |
| Gene Symbol | KDSR |
| UniProt | Q06136 (KDSR_HUMAN), A0A024R292 (A0A024R292_HUMAN), K7ERC8 (K7ERC8_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
6
Total Number of Articles : 5 |
Description |
3-ketodihydrosphingosine reductase |
| Gene Summary |
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] |
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