KDSR Human

KDSR catalyzes the reduction of 3-ketodihydrosphingosine (KDS) to dihydrosphingosine (DHS), which is the second step in the sphingolipid biosynthesis pathway . This reaction is vital for the formation of complex sphingolipids that are involved in various cellular processes, including cell signaling, apoptosis, and cell differentiation .

The active site residues of KDSR are located on the cytosolic side of the endoplasmic reticulum (ER) membrane . This localization is important for its function, as the ER is a key site for lipid synthesis and metabolism .

Mutations or chromosomal rearrangements involving the KDSR gene have been linked to several diseases. For instance, a chromosomal rearrangement in the KDSR gene is associated with follicular lymphoma, also known as type II chronic lymphatic leukemia . Additionally, mutations in the bovine ortholog of KDSR have been implicated in spinal muscular atrophy .

In humans, mutations in the KDSR gene can lead to disorders such as Erythrokeratodermia Variabilis Et Progressiva (EKVP), a group of skin disorders characterized by red, scaly patches on the skin . These mutations can disrupt the normal function of KDSR, leading to abnormalities in sphingolipid metabolism and subsequent cellular dysfunction .

Recombinant human KDSR is produced using Escherichia coli (E. coli) expression systems . The recombinant protein is typically fused with a His-tag at the N-terminus to facilitate purification . The purified KDSR protein is used in various research applications, including studies on sphingolipid metabolism and the development of therapeutic interventions for diseases associated with KDSR dysfunction .

The recombinant KDSR protein is supplied as a sterile, filtered solution and is stored under specific conditions to maintain its stability and activity . It is commonly used in biochemical assays to study its enzymatic activity and to screen for potential inhibitors that could be used as therapeutic agents .