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Fanconi anemia group I protein ELISA Kit Fanconi anemia group I protein Recombinant Fanconi anemia group I protein Antibody | Also known as Fanconi anemia group I protein (Protein FACI). FANCI: Plays an essential role in the repair of DNA double- strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branch >>> ed DNA: binds both single- stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage. Defects in FANCI are a cause of Fanconi anemia complementation group I (FANCI). A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell cycle regulation; DNA repair, damage
Chromosomal Location of Human Ortholog: 15q26.1
Cellular Component: cytoplasm; membrane; nucleoplasm
Molecular Function: protein binding
Biological Process: mitotic cell cycle G2/M transition DNA damage checkpoint; positive regulation of protein ubiquitination
Disease: Fanconi Anemia, Complementation Group I; Tracheoesophageal Fistula With Or Without Esophageal Atresia |
FANCI ELISA Kit FANCI Recombinant FANCI Antibody | KIAA1794 ELISA Kit KIAA1794 Recombinant KIAA1794 Antibody |
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