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LMOD3

From Wikipedia, the free encyclopedia
LMOD3
Identifiers
AliasesLMOD3, NEM10, leiomodin 3
External IDsOMIM: 616112; MGI: 2444169; HomoloGene: 28097; GeneCards: LMOD3; OMA:LMOD3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_198271
NM_001304418

NM_001081157

RefSeq (protein)

NP_001291347
NP_938012

NP_001074626

Location (UCSC)Chr 3: 69.11 – 69.12 MbChr 6: 97.22 – 97.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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Dysfunction is associated with thin filament disorganisation and nemaline myopathy.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163380Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044086Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: LMOD3 leiomodin 3 (fetal)".
  6. ^ 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.
  7. ^ 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.
  8. ^ 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

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