Search results for abx026668

Sphingomyelin Phosphodiesterase (SMPD1) Antibody, Abbexa, abx026668

The protein encoded by this gene is a lysosomal Sphingomyelin Phosphodiesterase 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].