KDSR
Function
Catalyzes the reduction of 3'-oxosphinganine (3-ketodihydrosphingosine/KDS) to sphinganine (dihydrosphingosine/DHS), the second step of de novo sphingolipid biosynthesis.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Defects in KDSR may be the cause of a spectrum of keratinization disorders with or without associated thrombocytopenia characterized by palmoplantar and anogenital hyperkeratosis or a more generalized phenotype resembling harlequin ichthyosis.
Pathway
Lipid metabolism; sphingolipid metabolism.
Sequence Similarities
Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Tissue Specificity
Expressed in all tissues examined. Highest expression in placenta. High expression in lung, kidney, stomach and small intestine, low expression in heart, spleen and skeletal muscle. Weakly expressed in normal hematopoietic tissues. Higher expression in some T-cell malignancies and PHA-stimulated lymphocytes.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
FVT1, SDR35C1, KDSR, 3-ketodihydrosphingosine reductase, KDS reductase, 3-dehydrosphinganine reductase, Follicular variant translocation protein 1, Short chain dehydrogenase/reductase family 35C member 1, FVT-1