American Thoracic Society Conference
(Booth # 1146) in Philadelphia, PA
5/19 - 5/23
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity.
Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick diseae type B (NPB). Three transcript variants encoding two different isoforms have been found for this gene.