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HAF019). A specific band was detected for SMPD1 at approximately 70 kDa (as indicated). This experiment was conducted under reducing conditions and using Western Blot Buffer Group 1." class="big_lightbox" target="_blank">
The protein encoded by the SMPD1 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). Three transcript variants encoding two different isoforms have been found for this gene. (provided by RefSeq)