FA complementation group A
Última actualización 3 Mar 2025
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The FANCA gene provides instructions for making a protein that is involved in a process known as the Fanconi anaemia (FA) pathway. The FA pathway turns on (activates) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway works to prevent a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs are abnormal connections between two DNA building blocks (nucleotides) on opposite strands of DNA. These cross-links stop the process of DNA replication and can be caused by a buildup of toxic substances in the body or by treatment with certain cancer therapy drugs (sometimes known as DNA cross-linking agents).
Normal function
The FANCA gene provides instructions for making a protein that is involved in a process known as the Fanconi anaemia (FA) pathway. The FA pathway turns on (activates) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway works to prevent a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs are abnormal connections between two DNA building blocks (nucleotides) on opposite strands of DNA. These cross-links stop the process of DNA replication and can be caused by a buildup of toxic substances in the body or by treatment with certain cancer therapy drugs (sometimes known as DNA cross-linking agents).
The FANCA protein is one of several proteins that form a group known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCA) and two proteins called Fanconi anaemia-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 FANCD2 and FANCI attracts DNA repair proteins to the damaged area of DNA so the cross-link can be removed and DNA replication can continue.
Conditions referring to this gene or chromosome
Otros nombres
FACA
FANCA_HUMAN
Fanconi anaemia, complementation group A
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Lecturas adicionales y referencias
- FA complementation group A; MedlinePlus, National Library of Medicine.
- 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.
- Deakyne JS, Mazin AV. Fanconi anemia: at the crossroads of DNA repair. Biochemistry (Mosc). 2011 Jan;76(1):36-48. doi: 10.1134/s0006297911010068.
- 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.
- Mehta PA, Ebens CL. Fanconi Anemia. 2002 Feb 14 [updated 2026 Jan 15]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1401/
- Taniguchi T, D'Andrea AD. Molecular pathogenesis of Fanconi anemia: recent progress. Blood. 2006 Jun 1;107(11):4223-33. doi: 10.1182/blood-2005-10-4240. Epub 2006 Feb 21.
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