MEGF10

From Wikipedia, the free encyclopedia
Jump to: navigation, search
MEGF10
Identifiers
Aliases MEGF10, EMARDD, multiple EGF like domains 10
External IDs MGI: 2685177 HomoloGene: 23771 GeneCards: MEGF10
Genetically Related Diseases
Alzheimer's disease[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001256545
NM_001308119
NM_001308121
NM_032446

NM_001001979

RefSeq (protein)

NP_001243474
NP_001295048
NP_001295050
NP_115822

NP_001001979.1
NP_001001979

Location (UCSC) Chr 5: 127.29 – 127.47 Mb Chr 18: 57.13 – 57.3 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Multiple EGF-like-domains 10 is a protein that in humans is encoded by the MEGF10 gene.[4]

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.[5]

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.[6]

References[edit]

  1. ^ "Diseases that are genetically associated with MEGF10 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ "Entrez Gene: Multiple EGF-like-domains 10". Retrieved 2011-11-26. 
  5. ^ 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. 
  6. ^ 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[edit]

External links[edit]