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SMPD1


Official Full Name
sphingomyelin phosphodiesterase 1
Organism
Homo sapiens
Gene ID
6609
Background
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]
Synonyms
ASM; NPD; ASMASE

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