Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion.
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AGGF1: Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion. Defects in AGGF1 are a cause of Klippel-Trenaunay syndrome (KTS). KTS is a congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell adhesion; RNA processing
Chromosomal Location of Human Ortholog: 5q13.3
Cellular Component: cytoplasm; extracellular region; nuclear speck; perinuclear region of cytoplasm
Molecular Function: protein binding; RNA binding
Biological Process: cell adhesion; mRNA processing; positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; regulation of RNA splicing; RNA processing; vasculogenesis
Disease: Klippel-trenaunay-weber Syndrome
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