) 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