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RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.

ABSTRACT: RasGRP2 is calcium and diacylglycerol-regulated guanine nucleotide exchange factor I that activates Rap1, which is an essential signaling-knot in "inside-out" ?IIb?3 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.

SUBMITTER: Canault M

PROVIDER: S-EPMC7037602 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.

Canault Matthias M Alessi Marie-Christine MC

International journal of molecular sciences 20200206 3

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 ...[more]

PMID: 32041177

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