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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). Three transcript variants encoding two different isoforms have been found for this gene.
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Protein Aliases: Acid sphingomyelinase; aSMase; Sphingomyelin phosphodiesterase; sphingomyelin phosphodiesterase 1, acid lysosomal; Sphingomyelin phosphodiesterase, processed form
Gene Aliases: ASM; ASMASE; NPD; SMPD1
UniProt ID: (Human) P17405
Entrez Gene ID: (Human) 6609