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Sphingomyelin phosphodiesterase 1 : ウィキペディア英語版 | 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.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6609 )〕 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.〔 Ziv Gan-Or, Laurie J. Ozelius, Anat Bar-Shira, Rachel Saunders-Pullman, Anat Mirelman, Ruth Kornreich, Mali Gana-Weisz, Deborah Raymond, Liron Rozenkrantz, Andres Deik, Tanya Gurevich, Susan J. Gross, Nicole Schreiber-Agus, Nir Giladi, Susan B. Bressman, and Avi Orr-Urtreger Neurology April 23, 2013 80:1606-1610 〕 ==References==
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