KDSR

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.

Full Name

3-ketodihydrosphingosine reductase

Function

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

Biological Process

3-keto-sphinganine metabolic processManual Assertion Based On ExperimentIDA:MGI
Sphingolipid biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

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).
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.

Topology

Cytoplasmic: 26-270
Helical: 271-291
Lumenal: 292-293
Helical: 294-314
Cytoplasmic: 315-332