Sphingomyelin phosphodiesterase 1

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Sphingomyelin phosphodiesterase 1, acid lysosomal
Identifiers
Symbols SMPD1 ; ASM; ASMASE; NPD
External IDs OMIM607608 MGI98325 HomoloGene457 ChEMBL: 2760 GeneCards: SMPD1 Gene
EC number 3.1.4.12
RNA expression pattern
PBB GE SMPD1 209420 s at tn.png
PBB GE SMPD1 216230 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6609 20597
Ensembl ENSG00000166311 ENSMUSG00000037049
UniProt P17405 Q04519
RefSeq (mRNA) NM_000543 NM_011421
RefSeq (protein) NP_000534 NP_035551
Location (UCSC) Chr 11:
6.41 – 6.42 Mb
Chr 7:
105.55 – 105.56 Mb
PubMed search [1] [2]

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.[1] Defects in SMPD1 gene cause Niemann-Pick disease, SMPD1-associated. Ziv Gan-Or et al. reported a p.L302P mutation in the SMPD1 gene as a risk factor for Parkinson disease.[2]

References[edit]

  1. ^ "Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)". 
  2. ^ Ziv Gan-Or, Laurie J. Ozelius, Anat Bar-Shira, Rachel Saunders-Pullman, Anat Mirelman, Ruth Kornreich, Mali Gana-Weisz, Deborah Raymond, Liron Rozenkrantz, Andres Deik, Tanya Gurevich, Susan J. Gross, Nicole Schreiber-Agus, Nir Giladi, Susan B. Bressman, and Avi Orr-Urtreger Neurology April 23, 2013 80:1606-1610

Further reading[edit]

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