The SMPD1 gene provides instructions for making an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes, which are small compartments in the cell that digest and recycle molecules. Acid sphingomyelinase is responsible for the conversion of a fat (lipid) called sphingomyelin into another type of lipid called ceramide. Sphingomyelin also binds (attaches) to a 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.
Other Names
acid sphingomyelinase; ASM; ASM_HUMAN; sphingomyelin phosphodiesterase 1, acid lysosomal; sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
Related Genetics Topics
Identifiers
- NCBI Gene: 6609
- OMIM: 607608
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
