PLVAP/PV-1

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.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Expressed in lung, kidney, heart, aorta, placenta, muscle, pituitary gland, adrenals, mammary gland, bladder, lymph node, bone marrow, trachea, digestive tract, liver and tumor-associated endothelium.

• Cell membrane
• Single-pass type II membrane protein
• Membrane
• Caveola
• Single-pass type II membrane protein
• 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.

FELS, PV1, PLVAP, Plasmalemma vesicle-associated protein, Fenestrated endothelial-linked structure protein, Plasmalemma vesicle protein 1, PV-1

• entrezGene:83483
• omim:607647
• swissprot:Q9BX97

Proteins

Immunology & Infectious Disease

50594Da