jueves, 9 de abril de 2015

FN1 - fibronectin 1 - Genetics Home Reference

FN1 - fibronectin 1 - Genetics Home Reference



Genetics Home Reference: your guide to understanding genetic conditions







FN1

What is the official name of the FN1 gene?

The official name of this gene is “fibronectin 1.”
FN1 is the gene's official symbol. The FN1 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 FN1 gene?

The FN1 gene provides instructions for making two types of the fibronectin-1 protein: soluble plasma fibronectin-1 and insoluble cellular fibronectin-1. Liver cells produce soluble plasma fibronectin-1 and release it into the bloodstream, where it is mainly involved in blood clotting and wound healing. Soluble plasma fibronectin-1 functions outside of cells (in the extracellular spaces), attaching (binding) to the surface of cells and binding to proteins, including other fibronectin-1 proteins. The attachment of these proteins form fibers that assist with tissue repair after an injury. Fibronectin-1 binding also helps with the continual formation of the extracellular matrix, which is an intricate lattice of proteins and other molecules that is made in the spaces between cells. This matrix provides structure and strength to tissues that support the body's organs. Many other cell types produce insoluble cellular fibronectin-1, which is released into the extracellular space and contributes to the creation of fibers and extracellular matrix. Both types of fibronectin-1 help individual cells expand (spread) and move (migrate) to cover more space and also influence cell shape and maturation (differentiation).

Does the FN1 gene share characteristics with other genes?

The FN1 gene belongs to a family of genes called endogenous ligands (endogenous ligands). It also belongs to a family of genes called fibronectin type III domain containing (fibronectin type III domain containing).
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 FN1 gene related to health conditions?



fibronectin glomerulopathy - caused by mutations in the FN1 gene
At least three mutations in the FN1 gene have been found to cause fibronectin glomerulopathy, a progressive kidney disease that usually begins in adulthood and results in irreversible kidney failure (end-stage renal disease). FN1 gene mutations account for about 40 percent of cases of fibronectin glomerulopathy. The FN1 gene mutations change single protein building blocks (amino acids) in the fibronectin-1 protein. One mutation that occurs in multiple families replaces the amino acid tyrosine with the amino acid cysteine at position 973 in the fibronectin-1 protein (written as Tyr973Cys or Y973C). FN1 gene mutations impair the protein's ability to bind to cells and proteins. The unbound fibronectin-1 protein, specifically soluble plasma fibronectin-1, is deposited in the glomeruli of the kidneys. These structures are clusters of tiny blood vessels in the kidneys that filter waste products from blood, which are then released in urine. Even though there is an abundance of fibronectin-1 in the glomeruli, the extracellular matrix that supports the blood vessels is weak because the altered fibronectin-1 cannot assist in the matrix's continual formation. Without a strong cellular support network, the glomeruli are less able to filter waste. As a result, products that normally are retained by the body, such as protein and blood, get released in the urine, and acids are not properly filtered from the blood. Over time, the kidneys' ability to filter waste decreases until the kidneys can no longer function, resulting in end-stage renal disease.

Where is the FN1 gene located?

Cytogenetic Location: 2q34
Molecular Location on chromosome 2: base pairs 215,360,453 to 215,436,166
The FN1 gene is located on the long (q) arm of chromosome 2 at position 34.
The FN1 gene is located on the long (q) arm of chromosome 2 at position 34.
More precisely, the FN1 gene is located from base pair 215,360,453 to base pair 215,436,166 on chromosome 2.

Where can I find additional information about FN1?

You and your healthcare professional may find the following resources about FN1 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 FN1 gene or gene products?

  • CIG
  • cold-insoluble globulin
  • ED-B
  • fibronectin
  • FINC
  • FINC_HUMAN
  • FN
  • FNZ
  • LETS
  • migration-stimulating factor
  • MSF

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 FN1?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (5 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
FN1 - fibronectin 1 - Genetics Home Reference

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