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FVT1 / KDSR

3-ketodihydrosphingosine reductase

FVT1 / KDSR 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.

Gene Name: 3-ketodihydrosphingosine reductase
Synonyms: KDSR, 3-dehydrosphinganine reductase, DHSR, FVT-1, FVT1, KDS reductase, SDR35C1
Target Sequences: NM_002035 NP_002026.1 Q06136

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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).