Synonyms:ASM, ASMASE, ENTREZ:6609, HGNC:11120, MIM:607608, NM_000543, NM_001007593, NM_001318087, NM_001318088, NM_001365135, NPD, NP_000534, NP_001007594, NP_001305016, NP_001305017, NP_001352064, NR_027400, NR_134502, SMPD1, XM_011520304, XP_011518606, XR_001747940, XR_002957158, sphingomyelin phosphodiesterase 1
Omim:OMIM:607608
Id:ENSG00000166311
Hgnc:HGNC:11120
Description:sphingomyelin phosphodiesterase 1
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]