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Genetics Home Reference: your guide to understanding genetic conditions
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FANCA

Reviewed January 2012

What is the official name of the FANCA gene?

The official name of this gene is “Fanconi anemia, complementation group A.”

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

What is the normal function of the FANCA gene?

The FANCA gene provides instructions for making a protein that is involved in a cell process known as the Fanconi anemia (FA) pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs.

The FANCA protein is one of a group of proteins known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCA) and two proteins called Fanconi anemia-associated proteins (FAAPs). This complex activates two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of these two proteins, which attach (bind) together to form the ID protein complex, attract DNA repair proteins to the area of DNA damage so the error can be corrected and DNA replication can continue.

Does the FANCA gene share characteristics with other genes?

The FANCA gene belongs to a family of genes called FANC (Fanconi anemia, complementation groups).

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

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

Fanconi anemia - caused by mutations in the FANCA gene

More than 450 mutations in the FANCA gene have been found to cause Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk, and physical abnormalities. Mutations in the FANCA gene are responsible for 60 to 70 percent of all cases of Fanconi anemia. These mutations change single DNA building blocks (nucleotides) or insert or delete pieces of DNA in the FANCA gene. Some mutations allow production of a FANCA protein that has some residual function; other mutations prevent the production of any FANCA protein. Mutations that prevent all protein production usually lead to a shortage of blood cells at an earlier age and increase the risk of developing cancer of the blood-forming cells (leukemia) as compared to mutations that allow for some FANCA protein production.

Mutations in the FANCA gene lead to a nonfunctional FA core complex, which disrupts the entire FA pathway. As a result, DNA damage is not repaired efficiently and ICLs build up over time. The ICLs stall DNA replication, ultimately resulting in either abnormal cell death due to an inability make new DNA molecules or uncontrolled cell growth due to a lack of DNA repair processes. Cells that divide quickly, such as bone marrow cells and cells of the developing fetus, are particularly affected. The death of these cells results in the decrease in blood cells and the physical abnormalities characteristic of Fanconi anemia. When the buildup of errors in DNA leads to uncontrolled cell growth, affected individuals can develop leukemia or other cancers.

Where is the FANCA gene located?

Cytogenetic Location: 16q24.3

Molecular Location on chromosome 16: base pairs 89,737,550 to 89,816,657

The FANCA gene is located on the long (q) arm of chromosome 16 at position 24.3.

The FANCA gene is located on the long (q) arm of chromosome 16 at position 24.3.

More precisely, the FANCA gene is located from base pair 89,737,550 to base pair 89,816,657 on chromosome 16.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about FANCA?

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

  • FA
  • FAA
  • FACA
  • FANCA_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding FANCA?

anemia ; bone marrow ; cancer ; cell ; DNA ; DNA damage ; DNA repair ; DNA replication ; fetus ; gene ; leukemia ; molecule ; protein ; toxic ; ubiquitin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Deakyne JS, Mazin AV. Fanconi anemia: at the crossroads of DNA repair. Biochemistry (Mosc). 2011 Jan;76(1):36-48. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21568838?dopt=Abstract)
  • de Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res. 2009 Jul 31;668(1-2):11-9. doi: 10.1016/j.mrfmmm.2008.11.004. Epub 2008 Nov 14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19061902?dopt=Abstract)
  • OMIM: FANCA GENE (http://omim.org/entry/607139)
  • Kee Y, D'Andrea AD. Expanded roles of the Fanconi anemia pathway in preserving genomic stability. Genes Dev. 2010 Aug 15;24(16):1680-94. doi: 10.1101/gad.1955310. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20713514?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2175)
  • Taniguchi T, D'Andrea AD. Molecular pathogenesis of Fanconi anemia: recent progress. Blood. 2006 Jun 1;107(11):4223-33. Epub 2006 Feb 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16493006?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2012
Published: October 27, 2014