Description
Product Characteristics: SMPD1, NPD, SMase, aSMase, Sphingomyelin Phosphodiesterase 1,Acid Lysosomal, Simply Sphingomyelinase
Target Information: 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 disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]