MEGF10

Multiple EGF-like-domains 10
Identifiers
Symbols MEGF10; DKFZp781K1852; FLJ41574; KIAA1780
External IDs OMIM612453 HomoloGene23771 GeneCards: MEGF10 Gene
Orthologs
Species Human Mouse
Entrez 84466 70417
Ensembl ENSG00000145794 ENSMUSG00000024593
UniProt Q96KG7 Q6DIB5
RefSeq (mRNA) NM_032446.2 NM_001001979.2
RefSeq (protein) NP_115822.1 NP_001001979.1
Location (UCSC) Chr 5:
126.63 – 126.8 Mb
Chr 18:
57.29 – 57.46 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 a regulator of satellite cell myogenesis. It has been shown to be the cause of onset myopathy, areflexia, respiratory distress and dysphagia.[2]

References

  1. ^ "Entrez Gene: Multiple EGF-like-domains 10". http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=84466. Retrieved 2011-11-26T12:01:36.734-08:00. 
  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. doi:10.1038/ng.995. PMID 22101682. 

Further reading

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