What is acid sphingomyelinase?

Answer 1

This enzyme is ordinarily found in special compartments within cells called lysosomes and is required to metabolize a certain lipid (fat).

Answer 2

Acid sphingomyelinase (ASM) is an enzyme involved in the metabolism of sphingolipids. Mutations in the gene encoding ASM lead to deficient enzyme activity, causing Niemann-Pick disease, a lysosomal storage disorder characterized by the accumulation of sphingomyelin in cells. Experimental treatments targeting ASM are being developed as potential therapies for this disease.