2iqc: Difference between revisions
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{{STRUCTURE_2iqc| PDB=2iqc | SCENE= }} | {{STRUCTURE_2iqc| PDB=2iqc | SCENE= }} | ||
===Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex=== | |||
{{ABSTRACT_PUBMED_17082180}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/FANCF_HUMAN FANCF_HUMAN]] Defects in FANCF are the cause of Fanconi anemia complementation group F (FANCF) [MIM:[http://omim.org/entry/603467 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.<ref>PMID:10615118</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/FANCF_HUMAN FANCF_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). | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017082180</ref><references group="xtra"/> | <ref group="xtra">PMID:017082180</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Andrea, A D.]] | [[Category: Andrea, A D.]] | ||
