The acid sphingomyelinase enzyme is found in lysosomes, which are small compartments in the cell that digest and recycle molecules. Acid sphingomyelinase turns a fat (lipid) called sphingomyelin into another type of lipid called ceramide. Sphingomyelin also binds to another fat called cholesterol and helps to form other lipids that play roles in various cell processes. The formations of these lipids is critical for the normal structure and function of cells and tissues.
At least 175 mutations in the SMPD1 gene have been found to cause Niemann-Pick disease types A and B. These types of Niemann-Pick disease are characterized by a buildup of fat within cells that leads to lung disease and enlargement of the liver and spleen (hepatosplenomegaly).
The INPDR SMPD1 Mutation Database captures novel and known mutations and is curated by an expert SMPD1 geneticist.
You can access the SMPD1 database here.
One of the long-term goals of the INPDR is to redevelop the database to help improve the quality of data and further exploration into this key area of research.