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Fanconi anemia (FA) is a rare, autosomal recessive, genetic disease resulting in impaired response to DNA damage in the FA/BRCA pathway. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer.
Fanconi syndrome or Fanconi's syndrome (English: / f ɑː n ˈ k oʊ n i /, / f æ n-/) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney. The syndrome can be caused by various underlying congenital or acquired diseases , by toxicity (for example, from toxic heavy metals ), or by adverse drug reactions . [ 2 ]
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair.
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA.
A mutation in 13 FANC genes can result in Fanconi anemia (FA), which is a cancer-prone chromosome instability disorder. [4] [10] [9] Fanconi anemia occurs when there is a biallelic mutation that inactivates the genes that are in charge of the replication stress associated DNA damage response. [4]
72775 Ensembl ENSG00000112039 ENSMUSG00000007570 UniProt Q9HB96 n/a RefSeq (mRNA) NM_021922 NM_001163819 NM_001163820 NM_028348 RefSeq (protein) NP_068741 n/a Location (UCSC) Chr 6: 35.45 – 35.47 Mb Chr 17: 28.53 – 28.55 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Fanconi anemia, complementation group E protein is a protein that in humans is encoded by the FANCE gene. The ...
Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene. [ 5 ] [ 6 ] This protein delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.
Fanconi anaemia, complementation group A, also known as FAA, FACA and FANCA, is a protein which in humans is encoded by the FANCA gene. [5] It belongs to the Fanconi anaemia complementation group (FANC) family of genes of which 12 complementation groups are currently recognized and is hypothesised to operate as a post-replication repair or a cell cycle checkpoint.