Synonyms: Anti-ASM; Anti-NPD; Anti-Sphingomyelin phosphodiesterase 1, acid lysosomal
Storage: -20C
Biochem Physiol Actions: SMPD1 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).