5JG8660920597ENSG00000166311ENSMUSG00000037049P17405Q04519NM_000543NM_001007593NM_001318087NM_001318088NM_001365135NM_011421NP_000534NP_001007594NP_001305016NP_001305017NP_001352064NP_035551Sphingomyelin 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.

[5] Defects in the SMPD1 gene cause Niemann–Pick disease, SMPD1-associated.

[5] A mutation from leucine to proline at amino acid residue 302 encoded by the SMPD1 gene was identified by Gan-Or et al. (2013) as a risk factor for Parkinson disease.

This article on a gene on human chromosome 11 is a stub.