KDSR, Official Symbol KDSRprovided by HGNC Official Full Name 3-ketodihydrosphingosine reductaseprovided by HGNC Primary source HGNC:HGNC:4021 See related Ensembl:ENSG00000119537 MIM:136440; AllianceGenome:HGNC:4021 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DHSR; FVT1; EKVP4; SDR35C1 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] Expression Ubiquitous expression in ovary (RPKM 14.9), skin (RPKM 11.7) and 25 other tissues See more Orthologs mouse all