5JG8
6609
20597
ENSG00000166311
ENSMUSG00000037049
P17405
Q04519
NM_000543NM_001007593NM_001318087NM_001318088NM_001365135
NM_011421
NP_000534NP_001007594NP_001305016NP_001305017NP_001352064
NP_035551
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.[5]
Defects in the SMPD1 gene cause Niemann–Pick disease, SMPD1-associated.[5]
A mutation from leucine to proline at amino acid residue 302 encoded by the SMPD1 gene was identified by Gan-Or et al. (2013) as a risk factor for Parkinson disease.[6]
This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.
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