Sphingomyelin phosphodiesterase 1

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.

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. (2013) as a risk factor for Parkinson disease.

External links

• GeneReviews/NCBI/NIH/UW entry on Acid Sphingomyelinase Deficiency Includes: Niemann-Pick Disease Type A, Niemann-Pick Disease Type B
• OMIM entries on Acid Sphingomyelinase Deficiency
• Overview of all the structural information available in the PDB for UniProt: P17405 (Human Sphingomyelin phosphodiesterase) at the PDBe-KB.