| 释义 |
- Clinical significance
- References
- Further reading
- External links
{{Infobox_gene}}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.[1] Clinical significance Defects in SMPD1 gene cause Niemann-Pick disease, SMPD1-associated.[1] A L302P mutation in the SMPD1 gene as a risk factor for Parkinson disease.[2] References 1. ^1 {{cite web | title = Entrez Gene: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6609| accessdate = }}
2. ^{{cite journal | vauthors = 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 | title = The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease | journal = Neurology | volume = 80 | issue = 17 | pages = 1606–10 | date = April 2013 | pmid = 23535491 | pmc = 3662322 | doi = 10.1212/WNL.0b013e31828f180e }}
Further reading {{refbegin | 2}}- {{cite journal | vauthors = Stoffel W | title = Functional analysis of acid and neutral sphingomyelinases in vitro and in vivo | journal = Chemistry and Physics of Lipids | volume = 102 | issue = 1-2 | pages = 107–21 | date = November 1999 | pmid = 11001565 | doi = 10.1016/S0009-3084(99)00079-1 }}
- {{cite journal | vauthors = Newrzella D, Stoffel W | title = Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene | journal = Biological Chemistry Hoppe-Seyler | volume = 373 | issue = 12 | pages = 1233–8 | date = December 1992 | pmid = 1292508 | doi = 10.1515/bchm3.1992.373.2.1233 }}
- {{cite journal | vauthors = Takahashi T, Desnick RJ, Takada G, Schuchman EH | title = Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease | journal = Human Mutation | volume = 1 | issue = 1 | pages = 70–1 | year = 1993 | pmid = 1301192 | doi = 10.1002/humu.1380010111 }}
- {{cite journal | vauthors = Levran O, Desnick RJ, Schuchman EH | title = Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients | journal = Blood | volume = 80 | issue = 8 | pages = 2081–7 | date = October 1992 | pmid = 1391960 | doi = }}
- {{cite journal | vauthors = Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH | title = 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 | journal = The Journal of Biological Chemistry | volume = 267 | issue = 18 | pages = 12552–8 | date = June 1992 | pmid = 1618760 | doi = }}
- {{cite journal | vauthors = Schuchman EH, Levran O, Suchi M, Desnick RJ | title = An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1) | journal = Nucleic Acids Research | volume = 19 | issue = 11 | pages = 3160 | date = June 1991 | pmid = 1711683 | pmc = 328296 | doi = 10.1093/nar/19.11.3160 }}
- {{cite journal | vauthors = Ferlinz K, Hurwitz R, Sandhoff K | title = Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A | journal = Biochemical and Biophysical Research Communications | volume = 179 | issue = 3 | pages = 1187–91 | date = September 1991 | pmid = 1718266 | doi = 10.1016/0006-291X(91)91697-B }}
- {{cite journal | vauthors = Schuchman EH, Levran O, Pereira LV, Desnick RJ | title = Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1) | journal = Genomics | volume = 12 | issue = 2 | pages = 197–205 | date = February 1992 | pmid = 1740330 | doi = 10.1016/0888-7543(92)90366-Z }}
- {{cite journal | vauthors = Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick RJ | title = Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs | journal = The Journal of Biological Chemistry | volume = 266 | issue = 13 | pages = 8531–9 | date = May 1991 | pmid = 1840600 | doi = }}
- {{cite journal | vauthors = Levran O, Desnick RJ, Schuchman EH | title = 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 | journal = The Journal of Clinical Investigation | volume = 88 | issue = 3 | pages = 806–10 | date = September 1991 | pmid = 1885770 | pmc = 295465 | doi = 10.1172/JCI115380 }}
- {{cite journal | vauthors = da Veiga Pereira L, Desnick RJ, Adler DA, Disteche CM, Schuchman EH | title = 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 | journal = Genomics | volume = 9 | issue = 2 | pages = 229–34 | date = February 1991 | pmid = 2004772 | doi = 10.1016/0888-7543(91)90246-B }}
- {{cite journal | vauthors = Levran O, Desnick RJ, Schuchman EH | title = Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 88 | issue = 9 | pages = 3748–52 | date = May 1991 | pmid = 2023926 | pmc = 51530 | doi = 10.1073/pnas.88.9.3748 }}
- {{cite journal | vauthors = Quintern LE, Schuchman EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick RJ | title = Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts | journal = The EMBO Journal | volume = 8 | issue = 9 | pages = 2469–73 | date = September 1989 | pmid = 2555181 | pmc = 401234 | doi = }}
- {{cite journal | vauthors = Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH | title = Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease | journal = Nature Genetics | volume = 10 | issue = 3 | pages = 288–93 | date = July 1995 | pmid = 7670466 | doi = 10.1038/ng0795-288 }}
- {{cite journal | vauthors = Sperl W, Bart G, Vanier MT, Christomanou H, Baldissera I, Steichen-Gersdorf E, Paschke E | title = A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate | journal = Journal of Inherited Metabolic Disease | volume = 17 | issue = 1 | pages = 93–103 | year = 1994 | pmid = 8051942 | doi = 10.1007/BF00735404 }}
- {{cite journal | vauthors = Ida H, Rennert OM, Eto Y, Chan WY | title = Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive | journal = Journal of Biochemistry | volume = 114 | issue = 1 | pages = 15–20 | date = July 1993 | pmid = 8407868 | doi = }}
- {{cite journal | vauthors = Ida H, Rennert OM, Maekawa K, Eto Y | title = Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B | journal = Human Mutation | volume = 7 | issue = 1 | pages = 65–7 | year = 1996 | pmid = 8664904 | doi = 10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q }}
- {{cite journal | vauthors = Schuchman EH | title = Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X | journal = Human Mutation | volume = 6 | issue = 4 | pages = 352–4 | year = 1996 | pmid = 8680412 | doi = 10.1002/humu.1380060412 }}
- {{cite journal | vauthors = Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada G | title = Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease | journal = The Tohoku Journal of Experimental Medicine | volume = 177 | issue = 2 | pages = 117–23 | date = October 1995 | pmid = 8693491 | doi = 10.1620/tjem.177.117 }}
- {{cite journal | vauthors = Ferlinz K, Hurwitz R, Moczall H, Lansmann S, Schuchman EH, Sandhoff K | title = Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis | journal = European Journal of Biochemistry / FEBS | volume = 243 | issue = 1-2 | pages = 511–7 | date = January 1997 | pmid = 9030779 | doi = 10.1111/j.1432-1033.1997.511_1a.x }}
{{refend}} External links - [https://www.ncbi.nlm.nih.gov/books/NBK1370/ GeneReviews/NCBI/NIH/UW entry on Acid Sphingomyelinase Deficiency Includes: Niemann-Pick Disease Type A, Niemann-Pick Disease Type B]
- [https://www.ncbi.nlm.nih.gov/omim/257200,607608,607616,257200,607608,607616 OMIM entries on Acid Sphingomyelinase Deficiency]
{{Esterases}}{{Glycolipid/sphingolipid metabolism enzymes}}{{gene-11-stub}} |