2iqc
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Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex
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Structural highlights
DiseaseFANCF_HUMAN Defects in FANCF are the cause of Fanconi anemia complementation group F (FANCF) [MIM:603467. 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.[1] FunctionFANCF_HUMAN DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity). References
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This page was last modified 09:04, 21 February 2024.