Acid Sphingomyelinase (ASM)
SMPD1; NPD; SMase; aSMase; Sphingomyelin Phosphodiesterase 1,Acid Lysosomal; Simply Sphingomyelinase
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)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPV473Hu01 | Recombinant Acid Sphingomyelinase (ASM) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAV473Hu01 | Monoclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IP. |
| PAV473Hu01 | Polyclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IF. | |
| Assay Kits | CLV473Hu01 | CLIA Kit for Acid Sphingomyelinase (ASM) | CLIA assay for Antigen Detection |
| ELV473Hu01 | ELISA Kit for Acid Sphingomyelinase (ASM) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Mus musculus (Mouse)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPV473Mu01 | Recombinant Acid Sphingomyelinase (ASM) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAV473Mu01 | Monoclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IP. |
| PAV473Mu01 | Polyclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IF. | |
| Assay Kits | CLV473Mu01 | CLIA Kit for Acid Sphingomyelinase (ASM) | CLIA assay for Antigen Detection |
| ELV473Mu01 | ELISA Kit for Acid Sphingomyelinase (ASM) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Rattus norvegicus (Rat)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPV473Ra01 | Recombinant Acid Sphingomyelinase (ASM) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAV473Ra01 | Monoclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IP. |
| PAV473Ra01 | Polyclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IF. | |
| Assay Kits | CLV473Ra01 | CLIA Kit for Acid Sphingomyelinase (ASM) | CLIA assay for Antigen Detection |
| ELV473Ra01 | ELISA Kit for Acid Sphingomyelinase (ASM) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Canis familiaris; Canine (Dog)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPV473Ca01 | Recombinant Acid Sphingomyelinase (ASM) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAV473Ca01 | Monoclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IP. |
| PAV473Ca01 | Polyclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IF. | |
| Assay Kits | CLV473Ca01 | CLIA Kit for Acid Sphingomyelinase (ASM) | CLIA assay for Antigen Detection |
| ELV473Ca01 | ELISA Kit for Acid Sphingomyelinase (ASM) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Sus scrofa; Porcine (Pig)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPV473Po01 | Recombinant Acid Sphingomyelinase (ASM) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAV473Po01 | Monoclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IP. |
| PAV473Po01 | Polyclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IF. | |
| Assay Kits | CLV473Po01 | CLIA Kit for Acid Sphingomyelinase (ASM) | CLIA assay for Antigen Detection |
| ELV473Po01 | ELISA Kit for Acid Sphingomyelinase (ASM) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Bos taurus; Bovine (Cattle)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPV473Bo01 | Recombinant Acid Sphingomyelinase (ASM) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAV473Bo01 | Monoclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IP. |
| PAV473Bo01 | Polyclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IF. | |
| Assay Kits | CLV473Bo01 | CLIA Kit for Acid Sphingomyelinase (ASM) | CLIA assay for Antigen Detection |
| ELV473Bo01 | ELISA Kit for Acid Sphingomyelinase (ASM) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Oryctolagus cuniculus (Rabbit)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPV473Rb01 | Recombinant Acid Sphingomyelinase (ASM) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAV473Rb01 | Monoclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IP. |
| PAV473Rb01 | Polyclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IF. | |
| Assay Kits | CLV473Rb01 | CLIA Kit for Acid Sphingomyelinase (ASM) | CLIA assay for Antigen Detection |
| ELV473Rb01 | ELISA Kit for Acid Sphingomyelinase (ASM) | Enzyme-linked immunosorbent assay for Antigen Detection |
Organism species: Rhesus monkey (Simian)
| PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
|---|---|---|---|
| Proteins | RPV473Mo01 | Recombinant Acid Sphingomyelinase (ASM) | Positive Control; Immunogen; SDS-PAGE; WB. |
| Antibodies | MAV473Mo01 | Monoclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IP. |
| PAV473Mo01 | Polyclonal Antibody to Acid Sphingomyelinase (ASM) | WB; IHC; ICC; IF. | |
| Assay Kits | CLV473Mo01 | CLIA Kit for Acid Sphingomyelinase (ASM) | CLIA assay for Antigen Detection |
| ELV473Mo01 | ELISA Kit for Acid Sphingomyelinase (ASM) | Enzyme-linked immunosorbent assay for Antigen Detection |
Reference
"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]
"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]
"Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)."
Genomics 12:197-205(1992) [PubMed] [Europe PMC] [Abstract]
"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]
"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
"Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts."
EMBO J. 8:2469-2473(1989) [PubMed] [Europe PMC] [Abstract]
"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]
"Human acid sphingomyelinase."
Eur. J. Biochem. 270:1076-1088(2003) [PubMed] [Europe PMC] [Abstract]
"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]
"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]
"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]
"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]
"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]
"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]
"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]
"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]
"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]
"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]
"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]
"Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency."
J. Inherit. Metab. Dis. 20:615-616(1997) [PubMed] [Europe PMC] [Abstract]
"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]
"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]
"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]
"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]
"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]
"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]
"Clinical findings in Niemann-Pick disease type B."
Intern. Med. J. 36:135-136(2006) [PubMed] [Europe PMC] [Abstract]
"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]
"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]
"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]
"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]