{"symbol":"SMPD1","synonyms":["ASMASE","NPD","ASM"],"name":"sphingomyelin phosphodiesterase 1, acid lysosomal","description":"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]","ncbiEntrezGeneId":6609,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/6609","proteins":[{"symbol":"ASM_HUMAN","href":"/api/1.0/protein/ASM_HUMAN"}],"hgncRootFamilies":[]}