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Symbol CD2AP contributors: shn/mct - updated : 13-09-2016
HGNC name CD2-associated protein
HGNC id 14258
  • CD2AP-deficient mice die at 6 to 7 weeks of age from renal failure. Knockout mice exhibited exhibited nephrotic syndrome and renal failure: defects in epithelial cell foot processes, mesangial cell hyperplasia and extracellular matrix deposition
  • Mice lacking CD2AP exhibit a congenital nephrotic syndrome characterized by extensive foot process effacement
  • Mice lacking CD2AP die at 6 weeks of age. Mice with CD2AP haploinsufficiency developed glomerular changes at 9 months and had increased susceptibility to glomerular injury by nephrotoxic antibodies or immune complexes