{"symbol":"KDSR","synonyms":["SDR35C1","DHSR","FVT1","EKVP4"],"name":"3-ketodihydrosphingosine reductase","description":"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]","ncbiEntrezGeneId":2531,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2531","proteins":[{"symbol":"KDSR_HUMAN","href":"/api/1.0/protein/KDSR_HUMAN"}],"hgncRootFamilies":[{"name":"Short chain dehydrogenase/reductase superfamily (SDR)","href":"/api/1.0/gene_family/Short+chain+dehydrogenase%24slash%24reductase+superfamily+%28SDR%29"}]}