The FANCA gene (FANCA stands for "FA Complementation Group A") is a protein-coding gene located on chromosome 16q24.3. Alternative splicing results in multiple transcript variants that code for different isoforms.
FANCA Gene
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Mutations in the FANCA gene are associated with Fanconi anemia. Fanconi anemia is a rare genetic disorder that follows autosomal recessive inheritance with the exception of FANCB and FANCR. Currently, mutations are known in 22 FA genes, with most patients having mutations in FANCA, FANCC, and FANCG. Loss of function in any of the FA genes leads to increased genetic instability, which can be detected in all cells, especially after administration of DNA double-strand cross-linking agents, such as mitomycin C or diepoxybutane (FA belongs to the so-called chromosome break syndromes .
Clinically, the disease is characterized by progressive pancytopenia, bone marrow insufficiency, various congenital malformations and a predisposition to the occurrence of hematological or solid tumors.