NSDHL

(redirected from NAD(P)-dependent steroid dehydrogenase-like)

NSDHL

A gene on chromosome Xq28 that encodes a protein that localises to the endoplasmic reticulum and is involved in cholesterol biosynthesis.

Molecular pathology
NSDHL mutations are associated with CHILD syndrome, an X-linked dominant disorder with disturbed cholesterol biosynthesis, which is usually lethal in males.