Aliases for KDSR Gene
External Ids for KDSR Gene
Previous Symbols for KDSR Gene
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]
GeneCards Summary for KDSR Gene
KDSR (3-Ketodihydrosphingosine Reductase) is a Protein Coding gene. Diseases associated with KDSR include follicular lymphoma. Among its related pathways are Sphingolipid metabolism and Sphingolipid metabolism. GO annotations related to this gene include 3-dehydrosphinganine reductase activity. An important paralog of this gene is HSD11B2.
UniProtKB/Swiss-Prot for KDSR Gene
Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS)