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].
应用类型
WB,IHC
免疫原
This SMPD1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 391-419 amino acids from the C-terminal region of human SMPD1.
