RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology

Matthias Canault (1) , Marie-Christine Alessi (1, 2)

1 C2VN - Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research
2 Laboratoire d'hématologie biologique [Hôpital de la Timone - Hôpital Nord - APHM]

RasGRP2 is calcium and diacylglycerol-regulated guanine nucleotide exchange factor I that activates Rap1, which is an essential signaling-knot in "inside-out" αIIbβ3 integrin activation in platelets. Inherited platelet function disorder caused by variants of RASGRP2 represents a new congenital bleeding disorder referred to as platelet-type bleeding disorder-18 (BDPLT18). We review here the structure of RasGRP2 and its functions in the pathophysiology of platelets and of the other cellular types that express it. We will also examine the different pathogenic variants reported so far as well as strategies for the diagnosis and management of patients with BDPLT18.

Mots clés: inherited platelet disorder 1. RasGRPs General Description Cell Signal Transduction Is a Finely Regulated Process That Relies on Several Control Hubs; RasGRP2; platelet

Domaines: Sciences du Vivant [q-bio]; Médecine humaine et pathologie

Matthias Canault, Marie-Christine Alessi. RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. International Journal of Molecular Sciences, 2020, 21 (3), pp.1075. ⟨10.3390/ijms21031075⟩. ⟨hal-03162242⟩