SMPD1( Human )

Entrez Gene 6609 Entrez Gene 6609
sphingomyelin phosphodiesterase 1

Alias

ASM|ASMASE|NPD

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].

Product Category