General description

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.

Immunogen

Recombinant fusion protein containing a sequence corresponding to amino acids 1-240 of human NSDHL (NP_057006.1).

Physical form

PBS with 0.02% sodium azide,50% glycerol,pH7.3.

Storage and Stability

Store at -20℃. Avoid freeze / thaw cycles.