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Gene Review

Efna4  -  ephrin A4

Mus musculus

Synonyms: EFL-4, EPH-related receptor tyrosine kinase ligand 4, Ephrin-A4, Epl4, Eplg4, ...
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Disease relevance of Efna4


High impact information on Efna4

  • Underlining the importance of ephrin-A4, we identified heterozygous mutations in the human orthologue, EFNA4, in three of 81 patients with non-syndromic coronal synostosis [1].
  • In addition, Southern blot analysis of DNA from interspecific backcross mice indicated that the mouse homologues Epl1, Epl3, and Epl4 map to a homologous region on mouse chromosome 3 [2].


  1. Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Merrill, A.E., Bochukova, E.G., Brugger, S.M., Ishii, M., Pilz, D.T., Wall, S.A., Lyons, K.M., Wilkie, A.O., Maxson, R.E. Hum. Mol. Genet. (2006) [Pubmed]
  2. The genes encoding the eph-related receptor tyrosine kinase ligands LERK-1 (EPLG1, Epl1), LERK-3 (EPLG3, Epl3), and LERK-4 (EPLG4, Epl4) are clustered on human chromosome 1 and mouse chromosome 3. Cerretti, D.P., Lyman, S.D., Kozlosky, C.J., Copeland, N.G., Gilbert, D.J., Jenkins, N.A., Valentine, V., Kirstein, M.N., Shapiro, D.N., Morris, S.W. Genomics (1996) [Pubmed]
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