Sphingomyelin phosphodiesterase 1: Difference between revisions
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==References== | ==References== | ||
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==Further reading== | ==Further reading== | ||
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Revision as of 15:03, 6 September 2012
| Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase) | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | SMPD1 ; ASM; NPD | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 457 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE SMPD1 209420 s at tn.png | |||||||||||
| File:PBB GE SMPD1 216230 x at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
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 type A.
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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 9030779.