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FANCG
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. Candidate tumor suppressor gene. Defects in FANCG are a cause of Fanconi anemia complementation group G (FANCG). 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. Note: This description may include information from UniProtKB.
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| Protein type: DNA repair |
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Cellular Component: nucleoplasm; mitochondrion
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Molecular Function: protein binding; damaged DNA binding
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Biological Process: mitochondrion organization and biogenesis; response to radiation; ovarian follicle development; DNA repair; cell cycle checkpoint; spermatid development
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Reference #:
O15287 (UniProtKB)
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| Alt. Names/Synonyms: DNA repair protein XRCC9; FAG; FANCG; Fanconi anemia group G protein; Fanconi anemia, complementation group G; Protein FACG; X-ray repair complementing defective repair in Chinese hamster cells 9; X-ray repair, complementing defective, in Chinese hamster, 9; XRCC9 |
| Gene Symbols: FANCG |
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Molecular weight: 68,554 Da
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Basal Isoelectric point: 5.32
Predict pI for various phosphorylation states
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