RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.

Matthias Canault, Marie-Christine Alessi

Journal: International journal of molecular sciences 2020;21(3):1075

PMID: 32041177

Abstract

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.

Address: Aix Marseille University, INSERM, INRAE, C2VN, 13005 Marseille, France.; Hematology Laboratory, APHM, CHU Timone, 13005 Marseille, France.

DOI: 10.3390/ijms21031075

Link outs

Free resources

Full Text Sources:

Medical:

https://medlineplus.gov/plateletdisorders.html

MeSH Terms: Blood Platelet Disorders, Blood Platelets, Child, Preschool, Female, Guanine Nucleotide Exchange Factors, Hemorrhage, Humans, Infant, Male, Platelet Glycoprotein GPIIb-IIIa Complex, Shelterin Complex, Signal Transduction, Telomere-Binding Proteins