MEGF10
| Multiple EGF-like-domains 10 | |||
|---|---|---|---|
| Identifiers | |||
| Symbols | MEGF10 ; EMARDD | ||
| External IDs | OMIM: 612453 HomoloGene: 23771 GeneCards: MEGF10 Gene | ||
| Orthologs | |||
| Species | Human | Mouse | |
| Entrez | 84466 | 70417 | |
| Ensembl | ENSG00000145794 | ENSMUSG00000024593 | |
| UniProt | Q96KG7 | Q6DIB5 | |
| RefSeq (mRNA) | NM_001256545 | NM_001001979 | |
| RefSeq (protein) | NP_001243474 | NP_001001979 | |
| Location (UCSC) |
Chr 5: 127.29 – 127.47 Mb |
Chr 18: 57.13 – 57.3 Mb | |
| PubMed search | |||
Multiple EGF-like-domains 10 is a protein that in humans is encoded by the MEGF10 gene.[1]
MEGF10 is a regulator of satellite cell myogenesis. It has been shown to be the cause of early-onset myopathy, areflexia, respiratory distress and dysphagia.[2]
MEGF10 and MEGF11, have critical roles in the formation of mosaics by two retinal interneuron subtypes, starburst amacrine cells and horizontal cells in mice. These cells are less likely to be near neighbours of the same subtype than would occur by chance, resulting in ‘exclusion zones’ that separate them. Mosaic arrangements provide a mechanism to distribute each cell type evenly across the retina, ensuring that all parts of the visual field have access to a full set of processing elements.[3]
References
- ↑ "Entrez Gene: Multiple EGF-like-domains 10". Retrieved 2011-11-26.
- ↑ Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, Riesen AV, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA (November 2011). "Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)". Nat Genet 43 (12): 1189–92. doi:10.1038/ng.995. PMID 22101682.
- ↑ Kay, Jeremy N.; Chu, Monica W.; Sanes, Joshua R. (March 2012). "MEGF10 and MEGF11 mediate homotypic interactions required for mosaic spacing of retinal neurons". Nature 483: 465–9. doi:10.1038/nature10877. PMID 22407321.
Further reading
- Hamon, Y.; Trompier, D.; Ma, Z.; Venegas, V.; Pophillat, M.; Mignotte, V.; Zhou, Z.; Chimini, G. (2006). Insall, Robert, ed. "Cooperation between Engulfment Receptors: The Case of ABCA1 and MEGF10". PLoS ONE 1 (1): e120. doi:10.1371/journal.pone.0000120. PMC 1762421. PMID 17205124.
- Suzuki, E.; Nakayama, M. (2007). "The mammalian Ced-1 ortholog MEGF10/KIAA1780 displays a novel adhesion pattern". Experimental Cell Research 313 (11): 2451–2464. doi:10.1016/j.yexcr.2007.03.041. PMID 17498693.
- Suzuki, E.; Nakayama, M. (2007). "MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation". Experimental Cell Research 313 (17): 3729–3742. doi:10.1016/j.yexcr.2007.06.015. PMID 17643423.
- Chen, X.; Wang, X.; Chen, Q.; Williamson, V.; Van Den Oord, E.; Maher, B. S.; O'Neill, F. A.; Walsh, D.; Kendler, K. S. (2008). "MEGF10 Association with Schizophrenia". Biological Psychiatry 63 (5): 441–448. doi:10.1016/j.biopsych.2007.11.003. PMC 2268016. PMID 18179784.
- Kang, S.; Zhao, J.; Liu, Q.; Zhou, R.; Wang, N.; Li, Y. (2009). "Vascular endothelial growth factor gene polymorphisms are associated with the risk of developing adenomyosis". Environmental and Molecular Mutagenesis 50 (5): 361–366. doi:10.1002/em.20455. PMID 19197986.
- Chen, X.; Sun, C.; Chen, Q.; O'Neill, F. A.; Walsh, D.; Fanous, A. H.; Chowdari, K. V.; Nimgaonkar, V. L.; Scott, A.; Schwab, S. G.; Wildenauer, D. B.; Che, R.; Tang, W.; Shi, Y.; He, L.; Luo, X. J.; Su, B.; Edwards, T. L.; Zhao, Z.; Kendler, K. S. (2009). Okazawa, Hitoshi, ed. "Apoptotic Engulfment Pathway and Schizophrenia". PLoS ONE 4 (9): e6875. doi:10.1371/journal.pone.0006875. PMC 2731162. PMID 19721717.
- Yun, L.; Gu, Y.; Hou, Y. (2011). "No association between schizophrenia and rs27388 of the MEGF10 gene in Chinese case–control sample". Psychiatry Research 186 (2–3): 467–468. doi:10.1016/j.psychres.2010.08.002. PMID 20813413.
- Singh, T. D.; Park, S. Y.; Bae, J. S.; Yun, Y.; Bae, Y. C.; Park, R. W.; Kim, I. S. (2010). "MEGF10 functions as a receptor for the uptake of amyloid-β". FEBS Letters 584 (18): 3936–3942. doi:10.1016/j.febslet.2010.08.050. PMID 20828568.
External links
This article is issued from Wikipedia - version of the Friday, August 28, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.