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 NCBI Gene:

  • Erythrokeratodermia variabilis et progressiva 4

From UniProt:

Erythrokeratodermia variabilis et progressiva 4 (EKVP4): A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. [MIM:617526]

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: 18q21.33, which is the long (q) arm of chromosome 18 at position 21.33

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

Cytogenetic Location: 18q21.33, which is the long (q) arm of chromosome 18 at position 21.33
  • DHSR
  • EKVP4
  • FVT1
  • SDR35C1