NSDHL Recombinant Rabbit Monoclonal Antibody [JE64-86]

The protein encoded by this gene 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. This protein is involved in step 4 of the subpathway that synthesizes zymosterol from lanosterol. This subpathway is part of the pathway zymosterol biosynthesis, which is itself part of Steroid biosynthesis. View all proteins of this organism that are known to be involved in the subpathway that synthesizes zymosterol from lanosterol, the pathway zymosterol biosynthesis and in Steroid biosynthesis.