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 the SMPD1 gene cause Niemann–Pick [disease, SMPD1-associated].
A mutation from leucine to proline at amino acid residue 302 encoded by the SMPD1 gene was identified by Gan-Or et al. as a risk factor for Parkinson disease.