• gene
  • Phosphoinositide-3-kinase enhancer (PIKE) proteins encoded by the PIKE/CENTG1 gene are members of the gamma subgroup of the Centaurin superfamily of small GTPases. (readbyqxmd.com)
  • 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)
  • multiple
  • The cardinal feature of this hereditary cancer syndrome is the development of multiple vascular tumors called hemangioblastomas in the central nervous system and retina combined with clear cell carcinoma of the kidney and pheochromocytoma. (rupress.org)
  • role
  • Phosphoinositide 3-kinase enhancer (PIKE) is a family of GTP-binding proteins that possess anti-apoptotic functions and play an important role in the central nervous system. (readbyqxmd.com)
  • Though αE-catenin exhibits substantial expression in cardiac muscle, αE-catenin is most well known for role in metastasizing tumor cells. (wikipedia.org)
  • function
  • 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)