Author/Authors :
Ashlee R. Stiles، نويسنده , , David W. Russell، نويسنده ,
Abstract :
The steroid 5α-reductase (SRD5A) family of enzymes produces steroid hormones that regulate male sexual development. Now, identify a member of this family, SRD5A3, as a polyprenol reductase with a crucial role in N-linked protein glycosylation and pinpoint SRD5A3 mutations as the cause of a rare Mendelian disease.