NSDHL

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an is_associated_with::enzyme that in humans is encoded by the NSDHL is_associated_with::gene. This enzyme is localized in the is_associated_with::endoplasmic reticulum and is involved in cholesterol biosynthesis.

Clinical significance
Mutations in the NSDHL 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.