lunes, 14 de septiembre de 2015

F13A1 - coagulation factor XIII, A1 polypeptide - Genetics Home Reference

F13A1 - coagulation factor XIII, A1 polypeptide - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the F13A1 gene?

The official name of this gene is “coagulation factor XIII, A1 polypeptide.”
F13A1 is the gene's official symbol. The F13A1 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 F13A1 gene?

The F13A1 gene provides instructions for making one part, the A 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). When a new blood clot forms, the A and B subunits separate from one another, and the A subunit is 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).

Does the F13A1 gene share characteristics with other genes?

The F13A1 gene belongs to a family of genes called TGM (transglutaminases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the F13A1 gene related to health conditions?

factor XIII deficiency - caused by mutations in the F13A1 gene
At least 140 mutations in the F13A1 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). F13A1 gene mutations severely reduce the amount or activity of the A subunit of factor XIII. In most people with these mutations, the level of functional factor XIII in the bloodstream is less than 5 percent of normal. This loss of factor XIII activity weakens new blood clots and prevents them from stopping blood loss effectively.
other disorders - associated with the F13A1 gene
Several common variations (polymorphisms) in the F13A1 gene have been studied as possible risk factors for diseases involving abnormal blood clotting. The most common F13A1 gene polymorphism changes a single protein building block (amino acid) in a critical part of the A subunit, replacing the amino acid valine with the amino acid leucine at protein position 34 (written as Val34Leu or V34L). This genetic change speeds up the activation of factor XIII. The Val34Leu polymorphism has been studied in relation to heart disease, stroke, recurrent pregnancy loss, and several other conditions. However, the results of these studies have been conflicting, and it remains unclear whether the polymorphism represents a major risk factor for any of these conditions.

Where is the F13A1 gene located?

Cytogenetic Location: 6p25.3-p24.3
Molecular Location on chromosome 6: base pairs 6,144,077 to 6,321,012
The F13A1 gene is located on the short (p) arm of chromosome 6 between positions 25.3 and 24.3.
The F13A1 gene is located on the short (p) arm of chromosome 6 between positions 25.3 and 24.3.
More precisely, the F13A1 gene is located from base pair 6,144,077 to base pair 6,321,012 on chromosome 6.

Where can I find additional information about F13A1?

You and your healthcare professional may find the following resources about F13A1 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 F13A1 gene or gene products?

  • bA525O21.1 (coagulation factor XIII, A1 polypeptide)
  • coagulation factor XIIIa
  • coagulation factor XIII A chain
  • coagulation factor XIII A chain precursor
  • coagulation factor XIII, A polypeptide
  • F13A
  • factor XIIIa
  • fibrinoligase
  • fibrin stabilizing factor, A subunit
  • FSF, A subunit
  • protein-glutamine gamma-glutamyltransferase A chain
  • TGase
  • transglutaminase A chain
  • transglutaminase. plasma

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 F13A1?

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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