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FLASH GENE
Symbol RASA3 contributors: mct - updated : 27-02-2015
HGNC name RAS p21 protein activator 3
HGNC id 20331
ASSOCIATED DISORDERS
corresponding disease(s)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • in mice, reduced expression of Rasa3 led to premature platelet activation and markedly reduced the life span of circulating platelets
  • Rasa3 catalytic inactivation in mouse hematopoietic cells results in a lethal syndrome characterized by severe defects during megakaryopoiesis, thrombocytopenia and a predisposition to develop preleukemia
  • scat phenotype is due to a mutation in Rasa3 with its mislocalization leading to its loss of function, and to crisis and remission episodes