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Gene Review

Nell1  -  NEL-like 1

Mus musculus

Synonyms: B230343H07Rik, NEL-like protein 1, Protein kinase C-binding protein NELL1, l7R6
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Disease relevance of Nell1


High impact information on Nell1

  • Real-time quantitative reverse transcription-PCR assays of 219 genes showed an association between the loss of Nell1 function and reduced expression of genes for extracellular matrix (ECM) proteins critical for chondrogenesis and osteogenesis [1].
  • In addition to the expected alteration of cranial morphology, Nell1(6R) mutants manifest skeletal defects in the vertebral column and ribcage, revealing a hitherto undefined role for Nell1 in signal transduction in endochondral ossification [1].
  • Here, we report the generation, positional cloning and characterization of Nell1(6R), a recessive, neonatal-lethal point mutation in the mouse Nell1 gene, induced by N-ethyl-N-nitrosourea [1].
  • The mammalian Nell1 gene encodes a protein kinase C-beta1 (PKC-beta1) binding protein that belongs to a new class of cell-signaling molecules controlling cell growth and differentiation [1].
  • Further investigation into gene expression cascades revealed that fibroblast growth factor-2 and transforming growth factor-beta1 stimulated Nell-1 expression, whereas bone morphogenetic protein (BMP)-2 had no direct effect [2].

Biological context of Nell1


Other interactions of Nell1


  1. Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects. Desai, J., Shannon, M.E., Johnson, M.D., Ruff, D.W., Hughes, L.A., Kerley, M.K., Carpenter, D.A., Johnson, D.K., Rinchik, E.M., Culiat, C.T. Hum. Mol. Genet. (2006) [Pubmed]
  2. Nell-1-induced bone regeneration in calvarial defects. Aghaloo, T., Cowan, C.M., Chou, Y.F., Zhang, X., Lee, H., Miao, S., Hong, N., Kuroda, S., Wu, B., Ting, K., Soo, C. Am. J. Pathol. (2006) [Pubmed]
  3. Nell-1 induces acrania-like cranioskeletal deformities during mouse embryonic development. Zhang, X., Cowan, C.M., Jiang, X., Soo, C., Miao, S., Carpenter, D., Wu, B., Kuroda, S., Ting, K. Lab. Invest. (2006) [Pubmed]
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