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Sphingomyelin phosphodiesterase 1: Wikis

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Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
Identifiers
Symbols SMPD1; ASM; NPD
External IDs OMIM607608 MGI98325 HomoloGene457 GeneCards: SMPD1 Gene
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 Q3UEE0
RefSeq (mRNA) NM_000543 NM_011421
RefSeq (protein) NP_000534 NP_035551
Location (UCSC) Chr 11:
6.37 - 6.37 Mb
Chr 7:
105.43 - 105.43 Mb
PubMed search [1] [2]

Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase), also known as SMPD1, is a human sphingomyelin phosphodiesterase.[1] Defects in SMPD1 gene cause Niemann-Pick disease, SMPD1-associated.

References

Further reading

  • Stoffel W (2000). "Functional analysis of acid and neutral sphingomyelinases in vitro and in vivo.". Chem. Phys. Lipids 102 (1-2): 107–21. doi:10.1016/S0009-3084(99)00079-1. PMID 11001565.  
  • Newrzella D, Stoffel W (1993). "Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene.". Biol. Chem. Hoppe-Seyler 373 (12): 1233–8. PMID 1292508.  
  • Takahashi T, Desnick RJ, Takada G, Schuchman EH (1993). "Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.". Hum. Mutat. 1 (1): 70–1. doi:10.1002/humu.1380010111. PMID 1301192.  
  • Levran O, Desnick RJ, Schuchman EH (1992). "Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.". Blood 80 (8): 2081–7. PMID 1391960.  
  • Takahashi T, Suchi M, Desnick RJ, et al. (1992). "Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.". J. Biol. Chem. 267 (18): 12552–8. PMID 1618760.  
  • Schuchman EH, Levran O, Suchi M, Desnick RJ (1991). "An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1).". Nucleic Acids Res. 19 (11): 3160. doi:10.1093/nar/19.11.3160. PMID 1711683.  
  • Ferlinz K, Hurwitz R, Sandhoff K (1991). "Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A.". Biochem. Biophys. Res. Commun. 179 (3): 1187–91. doi:10.1016/0006-291X(91)91697-B. PMID 1718266.  
  • Schuchman EH, Levran O, Pereira LV, Desnick RJ (1992). "Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).". Genomics 12 (2): 197–205. doi:10.1016/0888-7543(92)90366-Z. PMID 1740330.  
  • Schuchman EH, Suchi M, Takahashi T, et al. (1991). "Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.". J. Biol. Chem. 266 (13): 8531–9. PMID 1840600.  
  • Levran O, Desnick RJ, Schuchman EH (1991). "Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.". J. Clin. Invest. 88 (3): 806–10. doi:10.1172/JCI115380. PMID 1885770.  
  • da Veiga Pereira L, Desnick RJ, Adler DA, et al. (1991). "Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4.". Genomics 9 (2): 229–34. doi:10.1016/0888-7543(91)90246-B. PMID 2004772.  
  • Levran O, Desnick RJ, Schuchman EH (1991). "Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.". Proc. Natl. Acad. Sci. U.S.A. 88 (9): 3748–52. doi:10.1073/pnas.88.9.3748. PMID 2023926.  
  • Quintern LE, Schuchman EH, Levran O, et al. (1989). "Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.". Embo J. 8 (9): 2469–73. PMID 2555181.  
  • Horinouchi K, Erlich S, Perl DP, et al. (1995). "Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.". Nat. Genet. 10 (3): 288–93. doi:10.1038/ng0795-288. PMID 7670466.  
  • Sperl W, Bart G, Vanier MT, et al. (1994). "A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.". J. Inherit. Metab. Dis. 17 (1): 93–103. doi:10.1007/BF00735404. PMID 8051942.  
  • Ida H, Rennert OM, Eto Y, Chan WY (1993). "Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive.". J. Biochem. 114 (1): 15–20. PMID 8407868.  
  • Ida H, Rennert OM, Maekawa K, Eto Y (1996). "Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.". Hum. Mutat. 7 (1): 65–7. doi:10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q. PMID 8664904.  
  • Schuchman EH (1996). "Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X.". Hum. Mutat. 6 (4): 352–4. doi:10.1002/humu.1380060412. PMID 8680412.  
  • Takahashi T, Suchi M, Sato W, et al. (1996). "Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.". Tohoku J. Exp. Med. 177 (2): 117–23. doi:10.1620/tjem.177.117. PMID 8693491.  
  • Ferlinz K, Hurwitz R, Moczall H, et al. (1997). "Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis.". Eur. J. Biochem. 243 (1-2): 511–7. doi:10.1111/j.1432-1033.1997.511_1a.x. PMID 9030779.  
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