Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     congenital plasminogen deficiency More than 50 mutations in the PLG gene have been identified in people with congenital plasminogen deficiency. This disorder is characterized by hard growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Congenital plasminogen deficiency most often affects the conjunctiva, which are the mucous membranes that protect the white part of the eye (the sclera) and line the eyelids. PLG gene mutations can decrease the amount of plasminogen produced, its function, or both. When the mutations affect plasminogen levels as well as the activity of the protein, affected individuals may be said to have type I congenital plasminogen deficiency, characterized by the growths previously described. People with PLG gene mutations that result in normal levels of plasminogen with reduced activity are said to have type II congenital plasminogen deficiency or dysplasminogenemia. This form of the condition often has no symptoms. A reduction in functional plasminogen results in less plasmin to break down fibrin, leading to a buildup of fibrin. The excess fibrin and the resulting inflammation of the tissue result in the inflamed growths characteristic of congenital plasminogen deficiency. It is unclear why the excess fibrin builds up in the mucous membranes but does not usually result in abnormal clots in the blood vessels (thromboses). Researchers suggest that other enzymes in the blood may also break down fibrin, helping to compensate for the reduced plasminogen levels.

     The PLG gene provides instructions for making a protein called plasminogen, which is produced in the liver. Enzymes called plasminogen activators convert plasminogen into the protein plasmin, which breaks down another protein called fibrin. Fibrin is the main protein involved in blood clots and is important for wound healing, creating the framework for normal tissue to grow back. Excess fibrin is broken down when no longer needed, and the new, more flexible normal tissue takes its place.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• NF-kappaB
• Egr-1
• AP-1
• c-Jun
• NF-kappaB1
• Sp1
• c-Fos

Tissue specificity:

Present in plasma and many other extracellular fluids. It is synthesized in the liver.

Enzyme Regulation:

Converted into plasmin by plasminogen activators, both plasminogen and its activator being bound to fibrin. Activated with catalytic amounts of streptokinase. Plasmin activity inhibited by SERPINE2.

Molecular Function:

• Apolipoprotein Binding
• Protein Domain Specific Binding
• Receptor Binding
• Serine-Type Endopeptidase Activity
• Serine-Type Peptidase Activity

Biological Processes:

• Blood Coagulation
• Cellular Protein Metabolic Process
• Extracellular Matrix Disassembly
• Fibrinolysis
• Negative Regulation Of Cell-Cell Adhesion Mediated By Cadherin
• Negative Regulation Of Cell Proliferation
• Negative Regulation Of Cell-Substrate Adhesion
• Negative Regulation Of Fibrinolysis
• Platelet Degranulation
• Positive Regulation Of Fibrinolysis
• Tissue Remodeling

Drug Bank:

• Alteplase
• Anistreplase
• Aprotinin
• Urokinase
• Reteplase
• Tenecteplase
• Tranexamic Acid
• Aminocaproic Acid
• Streptokinase

*synonyms