lunes, 14 de septiembre de 2015

F13B - coagulation factor XIII, B polypeptide - Genetics Home Reference

F13B - coagulation factor XIII, B polypeptide - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the F13B gene?

The official name of this gene is “coagulation factor XIII, B polypeptide.”
F13B is the gene's official symbol. The F13B 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 F13B gene?

The F13B gene provides instructions for making one part, the B subunit, of a protein called factor XIII. This protein is part of a group of related proteins called coagulation factors that are essential for normal blood clotting. They work together as part of the coagulation cascade, which is a series of chemical reactions that forms blood clots in response to injury. After an injury, clots seal off blood vessels to stop bleeding and trigger blood vessel repair. Factor XIII acts at the end of the cascade to strengthen and stabilize newly formed clots, preventing further blood loss.
Factor XIII in the bloodstream is made of two A subunits (produced from the F13A1 gene) and two B subunits (produced from the F13B gene). The role of the B subunits is to carry and stabilize the A subunits, protecting them from being broken down. When a new blood clot forms, the A and B subunits separate from one another, and the A subunits are cut (cleaved) to produce the active form of factor XIII (factor XIIIa). The active protein links together molecules of fibrin, the material that forms the clot, which strengthens the clot and keeps other molecules from breaking it down.
Studies suggest that factor XIII has additional functions, although these are less well understood than its role in blood clotting. Specifically, factor XIII is likely involved in other aspects of wound healing, immune system function, maintaining pregnancy, bone formation, and the growth of new blood vessels (angiogenesis).

How are changes in the F13B gene related to health conditions?

factor XIII deficiency - caused by mutations in the F13B gene
At least 17 mutations in the F13B gene have been found to cause inherited factor XIII deficiency, a rare bleeding disorder. Without treatment, affected individuals have a greatly increased risk of abnormal bleeding episodes, including life-threatening bleeding inside the skull (intracranial hemorrhage). F13B gene mutations severely reduce the amount or disrupt the function of the B subunit of factor XIII, preventing it from stabilizing and protecting the A subunit. The resulting loss of factor XIII activity weakens new blood clots and prevents them from stopping blood loss effectively.
Genetics Home Reference provides information about age-related macular degeneration, which is also associated with changes in the F13B gene.

Where is the F13B gene located?

Cytogenetic Location: 1q31-q32.1
Molecular Location on chromosome 1: base pairs 197,039,190 to 197,067,266
The F13B gene is located on the long (q) arm of chromosome 1 between positions 31 and 32.1.
The F13B gene is located on the long (q) arm of chromosome 1 between positions 31 and 32.1.
More precisely, the F13B gene is located from base pair 197,039,190 to base pair 197,067,266 on chromosome 1.

Where can I find additional information about F13B?

You and your healthcare professional may find the following resources about F13B 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 F13B gene or gene products?

  • coagulation factor XIII B chain
  • coagulation factor XIII B chain precursor
  • fibrin-stabilizing factor B subunit
  • protein-glutamine gamma-glutamyltransferase B chain
  • TGase
  • transglutaminase B chain

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 F13B?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (9 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

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