Aliases for KDSR Gene
External Ids for KDSR Gene
Previous HGNC Symbols for KDSR Gene
Previous GeneCards Identifiers 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 Erythrokeratodermia Variabilis Et Progressiva 4 and Distal Chromosome 18Q Deletion Syndrome. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 3-dehydrosphinganine reductase activity. An important paralog of this gene is RDH13.
UniProtKB/Swiss-Prot Summary for KDSR Gene
Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).