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2iqc

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[[Image:2iqc.png|left|200px]]
 
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{{STRUCTURE_2iqc| PDB=2iqc | SCENE= }}
{{STRUCTURE_2iqc| PDB=2iqc | SCENE= }}
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===Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex===
===Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex===
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{{ABSTRACT_PUBMED_17082180}}
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{{ABSTRACT_PUBMED_17082180}}
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==Disease==
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[[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>
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==Function==
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[[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==
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<ref group="xtra">PMID:017082180</ref><references group="xtra"/>
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<ref group="xtra">PMID:017082180</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Andrea, A D.]]
[[Category: Andrea, A D.]]

Revision as of 03:30, 25 March 2013

Template:STRUCTURE 2iqc

Contents

Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex

Template:ABSTRACT PUBMED 17082180

Disease

[FANCF_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]

Function

[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

2iqc is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Kowal P, Gurtan AM, Stuckert P, D'Andrea AD, Ellenberger T. Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex. J Biol Chem. 2007 Jan 19;282(3):2047-55. Epub 2006 Nov 1. PMID:17082180 doi:M608356200
  1. ↑ de Winter JP, Rooimans MA, van Der Weel L, van Berkel CG, Alon N, Bosnoyan-Collins L, de Groot J, Zhi Y, Waisfisz Q, Pronk JC, Arwert F, Mathew CG, Scheper RJ, Hoatlin ME, Buchwald M, Joenje H. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet. 2000 Jan;24(1):15-6. PMID:10615118 doi:10.1038/71626

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