PLVAP

Involved in the formation of stomatal and fenestral diaphragms of caveolae. May function in microvascular permeability.

Full Name

PLVAP

Function

Endothelial cell-specific membrane protein involved in the formation of the diaphragms that bridge endothelial fenestrae. It is also required for the formation of stomata of caveolae and transendothelial channels. Functions in microvascular permeability, endothelial fenestrae contributing to the passage of water and solutes and regulating transcellular versus paracellular flow in different organs. Plays a specific role in embryonic development.

Biological Process

Developmental processISS:UniProtKB
MAPK cascadeManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of cellular extravasationManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of vascular permeabilityManual Assertion Based On ExperimentIBA:GO_Central
Tumor necrosis factor-mediated signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Cell membrane
Membrane, caveola
Cytoplasm, perinuclear region
Membrane-associated protein of caveolae. Found in fenestral and stomatal diaphragms in fenestrated endothelia and transendothelial channels. Also colocalized with CAV1 in perinuclear region.

Involvement in disease

Diarrhea 10, protein-losing enteropathy type (DIAR10):
An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities.

Topology

Cytoplasmic: 1-27
Helical: 28-48
Extracellular: 49-442