Sphingomyelin phosphodiesterase 1 (SMPD1), also known as
acid sphingomyelinase
Acid sphingomyelinase is one of the enzymes that make up the sphingomyelinase (SMase) family, responsible for catalyzing the breakdown of sphingomyelin to ceramide and phosphorylcholine. They are organized into alkaline, neutral, and acidic SMase d ...
(ASM), is an
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
that in humans is encoded by the ''SMPD1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
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 the ''SMPD1'' gene cause
Niemann–Pick disease, SMPD1-associated.
A mutation from leucine to proline at
amino acid
Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although over 500 amino acids exist in nature, by far the most important are the 22 α-amino acids incorporated into proteins. Only these 22 a ...
residue 302 encoded by the ''SMPD1'' gene was identified by Gan-Or et al. (2013) 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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