FANCC

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 C. [provided by RefSeq]

Fanconi anemia, complementation group C

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. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.

Brain morphogenesis Source: Ensembl
Cellular response to oxidative stress Source: GO_Central
DNA repair Source: ProtInc
Germ cell development Source: Ensembl
Interstrand cross-link repair Source: InterPro
Myeloid cell homeostasis Source: Ensembl
Neuronal stem cell population maintenance Source: Ensembl
Nucleotide-excision repair Source: GO_Central
Protein-containing complex assembly Source: ProtInc
Removal of superoxide radicals Source: Ensembl

Nucleus; Cytoplasm. The major form is nuclear. The minor form is cytoplasmic.

Fanconi anemia complementation group C (FANCC):
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.