Presku: | AAP35630 |
Size: | 100 ug |
Weight: | 65kDa |
Gene: | 6609 |
Format: | Lyophilized powder |
Target: | 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). |
Alternative names: | ASM; NPD |