disease:Defects in FANCG are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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.,function: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.,similarity:Contains 4 TPR repeats.,subcellular location:The major form is nuclear. The minor form is cytoplasmic.,subunit:Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients.,tissue specificity:Highly expressed in testis and thymus. Found in lymphoblasts.,
Nucleus . Cytoplasm . The major form is nuclear. The minor form is cytoplasmic.
Highly expressed in testis and thymus. Found in lymphoblasts.
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