Acid Sphingomyelinase (ASM)

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SMPD1; NPD; SMase; aSMase; Sphingomyelin Phosphodiesterase 1,Acid Lysosomal; Simply Sphingomyelinase

Acid Sphingomyelinase (ASM)

Sphingomyelin phosphodiesterase or simply Sphingomyelinase (SMase) is a hydrolase enzyme that is involved in sphingolipid metabolism reactions.

SMase is a member of the DNase I superfamily of enzymes and is responsible for breaking sphingomyelin (SM) down into phosphocholine and ceramide. The activation of SMase has been suggested as a major route for the production of ceramide in response to cellular stresses.

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

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
ProteinsRPB360Hu01Recombinant Acid Sphingomyelinase (ASM)SDS-PAGE; WB; ELISA; IP
AntibodiesPAB360Hu01Polyclonal Antibody to Acid Sphingomyelinase (ASM)WB, ICC, IHC-P, IHC-F, ELISA
MAB360Hu22Monoclonal Antibody to Acid Sphingomyelinase (ASM)WB, ICC, IHC-P, IHC-F, ELISA
Assay KitsSEB360HuELISA Kit for Acid Sphingomyelinase (ASM)Enzyme-linked immunosorbent assay for Antigen Detection

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Acid Sphingomyelinase (ASM)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Acid Sphingomyelinase (ASM)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Acid Sphingomyelinase (ASM)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Acid Sphingomyelinase (ASM)CLIA Kit Customized Service Offer
n/aELISA Kit for Acid Sphingomyelinase (ASM)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Acid Sphingomyelinase (ASM)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Acid Sphingomyelinase (ASM)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Acid Sphingomyelinase (ASM)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Acid Sphingomyelinase (ASM)CLIA Kit Customized Service Offer
n/aELISA Kit for Acid Sphingomyelinase (ASM)ELISA Kit Customized Service Offer
  1. "Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs."J. Biol. Chem. 266:8531-8539(1991) [PubMed] [Europe PMC] [Abstract]
  2. "Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene."Biol. Chem. Hoppe-Seyler 373:1233-1238(1992) [PubMed] [Europe PMC] [Abstract]
  3. "Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)."Genomics 12:197-205(1992) [PubMed] [Europe PMC] [Abstract]
  4. "Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive."J. Biochem. 114:15-20(1993) [PubMed] [Europe PMC] [Abstract]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  7. "Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts."EMBO J. 8:2469-2473(1989) [PubMed] [Europe PMC] [Abstract]
  8. "Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis."Eur. J. Biochem. 243:511-517(1997) [PubMed] [Europe PMC] [Abstract]
  9. "Human acid sphingomyelinase."Eur. J. Biochem. 270:1076-1088(2003) [PubMed] [Europe PMC] [Abstract]
  10. "Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol."BMC Med. Genet. 8:79-79(2007) [PubMed] [Europe PMC] [Abstract]
  11. "Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A."Biochem. Biophys. Res. Commun. 179:1187-1191(1991) [PubMed] [Europe PMC] [Abstract]
  12. "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. 88:3748-3752(1991) [PubMed] [Europe PMC] [Abstract]
  13. "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. 88:806-810(1991) [PubMed] [Europe PMC] [Abstract]
  14. "Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients."Blood 80:2081-2087(1992) [PubMed] [Europe PMC] [Abstract]
  15. "Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease."Hum. Mutat. 1:70-71(1992) [PubMed] [Europe PMC] [Abstract]
  16. "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. 267:12552-12558(1992) [PubMed] [Europe PMC] [Abstract]
  17. "A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate."J. Inherit. Metab. Dis. 17:93-103(1994) [PubMed] [Europe PMC] [Abstract]
  18. "Two new mutations in the acid sphingomyelinase gene causing type A Niemann-pick disease: N389T and R441X."Hum. Mutat. 6:352-354(1995) [PubMed] [Europe PMC] [Abstract]
  19. "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. 177:117-123(1995) [PubMed] [Europe PMC] [Abstract]
  20. "Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B."Hum. Mutat. 7:65-67(1996) [PubMed] [Europe PMC] [Abstract]
  21. "Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency."J. Inherit. Metab. Dis. 20:615-616(1997) [PubMed] [Europe PMC] [Abstract]
  22. "The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations."Am. J. Hum. Genet. 71:1413-1419(2002) [PubMed] [Europe PMC] [Abstract]
  23. "Seven novel Acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients."Ann. Hum. Genet. 67:63-70(2003) [PubMed] [Europe PMC] [Abstract]
  24. "Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1."Hum. Mutat. 24:105-105(2004) [PubMed] [Europe PMC] [Abstract]
  25. "Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon."Hum. Mutat. 24:186-187(2004) [PubMed] [Europe PMC] [Abstract]
  26. "Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick type B disease."Hum. Mutat. 26:164-164(2005) [PubMed] [Europe PMC] [Abstract]
  27. "Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study."J. Inherit. Metab. Dis. 28:203-227(2005) [PubMed] [Europe PMC] [Abstract]
  28. "Clinical findings in Niemann-Pick disease type B."Intern. Med. J. 36:135-136(2006) [PubMed] [Europe PMC] [Abstract]
  29. "A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease."Ann. Hematol. 88:695-697(2009) [PubMed] [Europe PMC] [Abstract]
  30. "Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients."Hum. Mutat. 30:1117-1122(2009) [PubMed] [Europe PMC] [Abstract]
  31. "Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease."Mol. Med. 16:316-321(2010) [PubMed] [Europe PMC] [Abstract]
  32. "A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease."Chin. Med. J. 125:1511-1512(2012) [PubMed] [Europe PMC] [Abstract]