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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.
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]
Fanconi anemia group D2 protein is a protein that in humans is encoded by ... Lung squamous tumors express high levels of FANCD2 and members of Fanconia anemia pathway.
The Fanconi anemia DNA repair pathway appears to play a key role in meiotic recombination and the maintenance of reproductive germ cells. [39] Loss of FANCA provokes neural progenitor apoptosis during forebrain development, likely related to defective DNA repair. [40]
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.
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 ...
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.
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.
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