KDSR gene

3-ketodihydrosphingosine reductase

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS).

From UniProt:

A chromosomal aberration involving KDSR is a cause of follicular lymphoma; also known as type II chronic lymphatic leukemia. Translocation t(2;18)(p11;q21) with a Ig J kappa chain region (PubMed:8417785).

Cytogenetic Location: 18q21.3, which is the long (q) arm of chromosome 18 at position 21.3

Molecular Location: base pairs 63,327,736 to 63,367,273 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q21.3, which is the long (q) arm of chromosome 18 at position 21.3
  • DHSR
  • FVT1
  • SDR35C1