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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.
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.
It is believed that FANCM in conjunction with other Fanconi anemia- proteins repair DNA at stalled replication forks, and stalled transcription structures called R-loops. [ 10 ] [ 11 ] The structure of the C-terminus of FANCM (amino acids 1799-2048), bound to a partner protein FAAP24, reveals how the protein complex recognises branched DNA. [ 9 ]
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.
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]
208836 Ensembl ENSG00000140525 ENSMUSG00000039187 UniProt Q9NVI1 Q8K368 RefSeq (mRNA) NM_001113378 NM_018193 NM_001376910 NM_001376911 NM_145946 RefSeq (protein) NP_001106849 NP_060663 NP_001363839 NP_001363840 NP_666058 Location (UCSC) Chr 15: 89.24 – 89.32 Mb Chr 7: 79.04 – 79.1 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Fanconi anemia, complementation group I (FANCI) also ...