Sphingomyelin phosphodiesterase 1 (SMPD1), also known as
acid sphingomyelinase (ASM), is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
that in humans is encoded by the ''SMPD1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Sphingomyelin phosphodiesterase 1 belongs to the
sphingomyelin phosphodiesterase
Sphingomyelin phosphodiesterase (EC 3.1.4.12, also known as neutral sphingomyelinase, sphingomyelinase, or SMase; systematic name sphingomyelin cholinephosphohydrolase) is a hydrolase enzyme that is involved in sphingolipid metabolism reactions. ...
family.
Clinical significance
Defects in SMPD1 gene cause
Niemann-Pick disease, SMPD1-associated.
A L302P mutation in the SMPD1 gene as a risk factor for Parkinson disease.
References
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*
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