Sphingomyelin phosphodiesterase 1
Template:Short description Template:Infobox gene 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.[1]
Clinical significance
Defects in the SMPD1 gene cause Niemann–Pick disease, SMPD1-associated.[1]
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.[2]
References
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Further reading
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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
- Template:PDBe-KB2
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