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PLG

PLG

Reviewed August 2012

What is the official name of the PLG gene?

The official name of this gene is “plasminogen.”

PLG is the gene's official symbol. The PLG gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PLG gene?

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.

How are changes in the PLG gene related to health conditions?

congenital plasminogen deficiency - caused by mutations in the PLG gene

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.

Where is the PLG gene located?

Cytogenetic Location: 6q26

Molecular Location on chromosome 6: base pairs 160,702,192 to 160,754,053

The PLG gene is located on the long (q) arm of chromosome 6 at position 26.

The PLG gene is located on the long (q) arm of chromosome 6 at position 26.

More precisely, the PLG gene is located from base pair 160,702,192 to base pair 160,754,053 on chromosome 6.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PLG?

You and your healthcare professional may find the following resources about PLG helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PLG gene or gene products?

  • DKFZp779M0222
  • plasmin
  • plasminogen isoform 1 precursor
  • plasminogen isoform 2 precursor
  • PLMN_HUMAN

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PLG?

congenital ; deficiency ; fibrin ; gene ; inflammation ; mucous ; precursor ; protein ; sclera ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: August 2012
Published: December 16, 2014