Immunoprecipitation of NSDHL transfected lysate using anti-NSDHL MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with NSDHL purified MaxPab mouse polyclonal antibody (B01P) (H00050814-B01P).
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. [provided by RefSeq
Other Designations:
OTTHUMP00000025902,short chain dehydrogenase/reductase family 31E, member 1,sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating