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SMPD1 gene

Known as: SPHINGOMYELINASE, ACID, acid sphingomyelinase, sphingomyelin phosphodiesterase 1 
This gene plays a role in ceramide metabolism.
National Institutes of Health

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HydrolysisPhospholipid MetabolismSMPD3 geneSPHINGOMYELINASE

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SMPD1 wt Allele

Papers overview

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2020
2020
SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder
2020
2020
SMPD1 variants do not have a major role in REM sleep behavior disorder
Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson disease (PD) and… 
2016
2016
The Effect of Mechanical Ventilation on Lung Epithelial Cell Fate
Premature infants subjected to mechanical ventilation (MV) are prone to lung injury that may result in bronchopulmonary dysplasia… 
2015
2015
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease
Loss-of-function mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene are associated with decreased catalytic activity… 
2015
2015
Association study between SMPD1 p.L302P and sporadic Parkinson's disease in ethnic Chinese population.
PURPOSE The protein encoded by sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1) is a lysosomal acid sphingomyelinase… 
Review
2014
Review
2014
Genes associated with low serum high-density lipoprotein cholesterol.
Atherosclerosis is the main cause of death in the world through causing ischemic heart disease (IHD). Altered serum lipid level… 
2009
2009
[siRNAs targetting sphingomyelin phosphodiesterase 1 protect mouse oocytes from apoptosis].
OBJECTIVE To investigate the potential of siRNAs targeting sphingomyelin phosphodiesterase 1 (SMPD1) in protecting the oocytes… 
2005
2005
Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: ‘Proof of principle’ in acid sphingomyelinase-deficient mice
SummaryGenetic diagnosis of preimplantation embryos (PGD) can substantially reduce the chance that at-risk couples have children… 
1993
1993
Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease
1992
1992
Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene.
The cDNA and complete gene encoding mouse acid sphingomyelinase (ASM) has been isolated using a homology screening approach… 
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