Sphingomyelin phosphodiesterase 1


Sphingomyelin phosphodiesterase 1, also known as acid sphingomyelinase, is an enzyme that in humans is encoded by the SMPD1 gene.
Sphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase family.

Clinical significance

Defects in SMPD1 gene cause Niemann-Pick disease, SMPD1-associated.
A L302P mutation in the SMPD1 gene as a risk factor for Parkinson disease.