Recombinant protein encompassing a sequence within the center region of human NSDHL. The exact sequence is proprietary.
Alternative Synonym:
H105E3, XAP104, SDR31E1
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.
