Gene Symbol | KDSR |
Entrez Gene ID | 2531 |
Full Name | 3-ketodihydrosphingosine reductase |
Synonyms | DHSR,EKVP4,FVT1,SDR35C1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Erythrokeratodermia variabilis et progressiva 4, 617526 (3) |