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The multifaceted PDCD10/CCM3 gene.

Authors :
Valentino M
Dejana E
Malinverno M
Source :
Genes & diseases [Genes Dis] 2020 Dec 30; Vol. 8 (6), pp. 798-813. Date of Electronic Publication: 2020 Dec 30 (Print Publication: 2021).
Publication Year :
2020

Abstract

The programmed cell death 10 ( PDCD10 ) gene was originally identified as an apoptosis-related gene, although it is now usually known as CCM3 , as the third causative gene of cerebral cavernous malformation (CCM). CCM is a neurovascular disease that is characterized by vascular malformations and is associated with headaches, seizures, focal neurological deficits, and cerebral hemorrhage. The PDCD10/CCM3 protein has multiple subcellular localizations and interacts with several multi-protein complexes and signaling pathways. Thus PDCD10/CCM3 governs many cellular functions, which include cell-to-cell junctions and cytoskeleton organization, cell proliferation and apoptosis, and exocytosis and angiogenesis. Given its central role in the maintenance of homeostasis of the cell, dysregulation of PDCD10/CCM3 can result in a wide range of altered cell functions. This can lead to severe diseases, including CCM, cognitive disability, and several types of cancers. Here, we review the multifaceted roles of PDCD10/CCM3 in physiology and pathology, with a focus on its functions beyond CCM.<br /> (© 2021 Chongqing Medical University. Production and hosting by Elsevier B.V.)

Details

Language :
English
ISSN :
2352-3042
Volume :
8
Issue :
6
Database :
MEDLINE
Journal :
Genes & diseases
Publication Type :
Academic Journal
Accession number :
34522709
Full Text :
https://doi.org/10.1016/j.gendis.2020.12.008