Sphingomyelin phosphodiesterase 1

Sphingomyelin phosphodiesterase 1 (SMPD1), also known as is_associated_with::acid sphingomyelinase (ASM), is an is_associated_with::enzyme that in humans is encoded by the SMPD1 is_associated_with::gene.

Sphingomyelin phosphodiesterase 1 belongs to the is_associated_with::sphingomyelin phosphodiesterase family. Defects in SMPD1 gene cause is_associated_with::Niemann-Pick disease, SMPD1-associated. Ziv Gan-Or et al. reported a p.L302P mutation in the SMPD1 gene as a risk factor for Parkinson disease.