FANCG
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq]
Full Name
Fanconi anemia, complementation group G
Research Area
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.
Biological Process
Cellular response to DNA damage stimulus Source: GO_Central
DNA repair Source: ProtInc
Interstrand cross-link repair Source: InterPro
Mitochondrion organization Source: UniProtKB
Ovarian follicle development Source: Ensembl
Response to radiation Source: Ensembl
Spermatid development Source: Ensembl
Cellular Location
Cytoplasm; Nucleus. The major form is nuclear. The minor form is cytoplasmic.
Involvement in disease
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.