NAD Dependent Steroid Dehydrogenase Like Protein (NSDHL)

NSDHL is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. In addition to endoplasmic reticulum (ER)- localization commonly found for enzymes of post-squalene cholesterol biosynthesis, the authors identified a novel association of NSDHL with lipid droplets, which are ER-derived cytoplasmic structures containing a neutral lipid core. Trafficking through the Golgi was necessary for ER membrane localization of the protein.