• 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)
  • 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)
  • kidney
  • 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)
  • functional
  • Merlin's ability to enter the nucleus is complemented by a full nuclear-cytoplasmic shuttle protein with a functional Rev-type nuclear export sequence (NES) within exon 15 that facilitates export via the CRM1/exportin pathway. (oup.com)
  • 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)
  • known
  • Catenins (α,β,and γ (also known as plakoglobin)) were originally identified in complex with E-cadherin, an epithelial cell adhesion protein. (wikipedia.org)
  • domain
  • They are characterized by their chimeric protein domain architecture consisting of a pleckstrin homology (PH) domain, a GTPase-activating (GAP) domain, Ankyrin repeats as well as an intrinsic GTPase domain. (readbyqxmd.com)
  • Nuclear entry of merlin is thus regulated by alternative splicing within the 4.1/JEF domain and analogous to band 4.1 protein. (oup.com)