Tags: Protein.

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

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