Entrez 6609 | Ensembl ENSG00000166311 | |
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Aliases SMPD1, ASM, ASMASE, NPD, Sphingomyelin phosphodiesterase 1 External IDs MGI: 98325 HomoloGene: 457 GeneCards: SMPD1 | ||
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.
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
Sphingomyelin phosphodiesterase 1 Wikipedia(Text) CC BY-SA