Aliases for KDSR Gene
Aliases for KDSR Gene
External Ids for KDSR Gene
- HGNC: 4021
- NCBI Gene: 2531
- Ensembl: ENSG00000119537
- OMIM®: 136440
- UniProtKB/Swiss-Prot: Q06136
Previous HGNC Symbols for KDSR Gene
- FVT1
Previous GeneCards Identifiers for KDSR Gene
- GC18M059145
- GC18M060994
- GC18M057693
Summaries for KDSR Gene
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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 Erythrokeratodermia Variabilis Et Progressiva 1. Among its related pathways are Sphingolipid metabolism and Sphingolipid pathway. 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). ( KDSR_HUMAN,Q06136 )