• Mutations
  • Mutations in proteins localized to cilia have been implicated in a growing number of human diseases. (rupress.org)
  • These results indicate that regulation of beta-catenin is critical to APC's tumor suppressive effect and that this regulation can be circumvented by mutations in either APC or beta-catenin. (labome.org)
  • gene
  • The tumor syndrome von Hippel-Lindau (VHL) disease is caused by heterozygous germline inactivation of the VHL tumor suppressor gene, which resides on chromosome 3p25 ( Kaelin, 2003 ). (rupress.org)
  • VHL disease is an autosomal-dominant disorder, and tumor development in VHL disease is linked to somatic inactivation of the remaining wild-type VHL allele, leading to loss of the wild-type VHL gene product, VHL protein (pVHL). (rupress.org)
  • αE-catenin, also known as Catenin alpha-1 is a protein that in humans is encoded by the CTNNA1 gene. (wikipedia.org)
  • function
  • αE-catenin also plays a role in tumor metastasis and skin cell function. (wikipedia.org)
  • Functional αE-catenin is required for normal embryonic development, as a mutation eliminating the C-terminal 1/3 of the protein resulting in a complete loss-of-function phenotype showed disruption of the trophoblast epithelium and arrested development at the blastocyst stage. (wikipedia.org)
  • cells
  • In this study, we demonstrate that the von Hippel-Lindau (VHL) protein (pVHL) is a ciliary protein that controls ciliogenesis in kidney cells. (rupress.org)
  • Though αE-catenin exhibits substantial expression in cardiac muscle, αE-catenin is most well known for role in metastasizing tumor cells. (wikipedia.org)
  • role
  • The data suggest that Amer1 exerts its negative regulatory role in Wnt signaling by acting as a scaffold protein for the β-catenin destruction complex and promoting stabilization of Axin at the plasma membrane. (xenbase.org)
  • complex
  • We show here that Amer1 directly interacts with the armadillo repeats of β-catenin via a domain consisting of repeated arginine-glutamic acid-alanine (REA) motifs, and that Amer1 assembles the β-catenin destruction complex at the plasma membrane by recruiting β-catenin, adenomatous polyposis coli, and Axin/Conductin. (xenbase.org)
  • Catenins (α,β,and γ (also known as plakoglobin)) were originally identified in complex with E-cadherin, an epithelial cell adhesion protein. (wikipedia.org)