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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.
Read more about gene names and symbols on the About page.
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? in the Handbook.
How are changes in the FANCA gene related to health conditions?
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.
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? 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?
See How are genetic conditions and genes named? in the Handbook.
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 FANCA?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 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.