MEGF10

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Multiple EGF-like-domains 10
Identifiers
Symbols MEGF10 ; EMARDD
External IDs OMIM612453 HomoloGene23771 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:
126.63 – 126.8 Mb
Chr 18:
57.13 – 57.3 Mb
PubMed search [1] [2]

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[edit]

  1. ^ "Entrez Gene: Multiple EGF-like-domains 10". Retrieved 2011-11-26. 
  2. ^ 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. 
  3. ^ 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. doi:10.1038/nature10877. 

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