| LMOD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LMOD3, NEM10, leiomodin 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 616112 MGI: 2444169 HomoloGene: 28097 GeneCards: LMOD3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Leiomodin-3 is a protein that in humans is encoded by the LMOD3 gene.[5][6] Leiomodin-3 is especially present at the pointed end of muscle thin filaments.[7]
Clinical significance
Dysfunction is associated with thin filament disorganisation and nemaline myopathy.[8]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000163380 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000044086 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: LMOD3 leiomodin 3 (fetal)".
- ↑ Gunning PW, Ghoshdastider U, Whitaker S, Popp D, Robinson RC (June 2015). "The evolution of compositionally and functionally distinct actin filaments". Journal of Cell Science. 128 (11): 2009–19. doi:10.1242/jcs.165563. PMID 25788699.
- ↑ Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG (November 2015). "Clinical utility gene card for: Nemaline myopathy - update 2015". European Journal of Human Genetics. 23 (11): 4–5. doi:10.1038/ejhg.2015.12. PMC 4613474. PMID 25712079.
- ↑ Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, et al. (November 2014). "Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy". The Journal of Clinical Investigation. 124 (11): 4693–708. doi:10.1172/JCI75199. PMC 4347224. PMID 25250574.
Further reading
- Lane HY, Liu YC, Huang CL, Chang YC, Wu PL, Lu CT, Chang WH (April 2006). "Risperidone-related weight gain: genetic and nongenetic predictors". Journal of Clinical Psychopharmacology. 26 (2): 128–34. doi:10.1097/01.jcp.0000203196.65710.2b. PMID 16633140. S2CID 34821033.
- Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
- Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
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