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Sphingomyelin phosphodiesterase 1

From Wikipedia, the free encyclopedia
SMPD1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSMPD1, ASM, ASMASE, NPD, Sphingomyelin phosphodiesterase 1
External IDsOMIM: 607608; MGI: 98325; HomoloGene: 457; GeneCards: SMPD1; OMA:SMPD1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000543
NM_001007593
NM_001318087
NM_001318088
NM_001365135

NM_011421

RefSeq (protein)

NP_000534
NP_001007594
NP_001305016
NP_001305017
NP_001352064

NP_035551

Location (UCSC)Chr 11: 6.39 – 6.39 MbChr 7: 105.2 – 105.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Clinical significance

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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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166311Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037049Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)".
  6. ^ Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A (April 2013). "The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease". Neurology. 80 (17): 1606–10. doi:10.1212/WNL.0b013e31828f180e. PMC 3662322. PMID 23535491.

Further reading

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