Disease-gene associations mined from literature

Literature associating PECAM1 and CLOVES syndrome

PECAM1 [ENSP00000457421]

Platelet/endothelial cell adhesion molecule 1; Cell adhesion molecule which is required for leukocyte transendothelial migration (TEM) under most inflammatory conditions. Tyr-690 plays a critical role in TEM and is required for efficient trafficking of PECAM1 to and from the lateral border recycling compartment (LBRC) and is also essential for the LBRC membrane to be targeted around migrating leukocytes. Heterophilic interaction with CD177 plays a role in transendothelial migration of neutrophils. Homophilic ligation of PECAM1 prevents macrophage-mediated phagocytosis of neighboring viable leukocytes by transmitting a detachment signal. Promotes macrophage-mediated phagocytosis of apoptotic leukocytes by tethering them to the phagocytic cells; PECAM1-mediated detachment signal appears to be disabled in apoptotic leukocytes. Modulates bradykinin receptor BDKRB2 activation. Regulates bradykinin- and hyperosmotic shock- induced ERK1/2 activation in endothelial cells. Induces susceptibility to atherosclerosis (By similarity).

Synonyms:  PECAM1,  PECAM1p,  hPECAM1,  2KY5,  5175 ...

Linkouts:  STRING  Pharos