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ABclonal Technology A16263-1000ul SMPD1 / ASM

Supplier: ABclonal Technology A162631000UL

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
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