Entrez gene ID | | 2531 |
Official gene symbol | | KDSR |
Full name | | 3-ketodihydrosphingosine reductase |
Aliases | | ,DHSR,FLJ36555,FLJ92680,FVT1,SDR35C1, |
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] |
Location | | Chromosome: 18 Locus: 18q21.3 |
Gene position | | 61034506 - 60994971 Map Viewer |
Gene orientation | | minus |
Gene size | | 39536 bp |
Gene sequence |
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OMIM ID | | 136440 |