PDCD10 cDNA Clone – Programmed Cell Death 10 (Human)

This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

PDCD10: Promotes cell proliferation. Modulates apoptotic pathways. Increases mitogen-activated protein kinase activity and MST4 activity. Important for cell migration, and for normal structure and assembly of the Golgi complex. Important for KDR/VEGFR2 signaling. Increases the stability of KDR/VEGFR2 and prevents its breakdown. Required for normal cardiovascular development. Required for normal angiogenesis, vasculogenesis and hematopoiesis during embryonic development. Defects in PDCD10 are the cause of cerebral cavernous malformations type 3 (CCM3). Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. CCMs have an incidence of 0.1%-0.5% in the general population and usually present clinically during the 3rd to 5th decade of life. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. Belongs to the PDCD10 family.

Protein type: Apoptosis

Chromosomal Location of Human Ortholog: 3q26.1

Cellular Component: cytoplasm; cytosol; Golgi apparatus

Molecular Function: protein binding; protein homodimerization activity; protein kinase binding; protein N-terminus binding

Biological Process: establishment of Golgi localization; negative regulation of apoptosis; positive regulation of cell migration; positive regulation of cell proliferation; positive regulation of MAP kinase activity; positive regulation of Notch signaling pathway; positive regulation of peptidyl-serine phosphorylation; positive regulation of stress-activated MAPK cascade; protein stabilization; regulation of Rho protein signal transduction; response to hydrogen peroxide; stress fiber formation

Disease: Cerebral Cavernous Malformations 3