Description
Product Characteristics:
Fanconi anemia (FA) is an autosomal recessive disorder characterized by bone marrow failure, birth defects and chromsomal instability (1,2). The FA Group C complementation group gene encodes the protein FANCC, which is located in both cytoplasmic and nuclear compartments. FANCC is expressed in a cell cycle-dependent manner, with the lowest levels at the G1/S boundary and the highest levels in the M-phase. The FANCC protein interacts with other FA complementation group proteins as well as non-FA proteins (3). A human a spectrin II (designated aSpIIs) acts as a scaffold to enhance interactions between FANCC and FANCA to form a nuclear complex (4,5). Another binding partner of FANCC is the BTB/POZ domain containing protein FAZF, which is a transcriptional repressor (6). In hematopoietic cells expressing mutant FANCC, PKR is constitutively phosphorylated and has increased binding affinity for double-stranded RNA (7,8), which suggests that FANCC indirectly suppresses the activity of PKR. These cells are also apoptotic and are hypersensitive to IFNg and TNFa (8). In addition, FANCC protein is involved in the activation of STAT1 through receptors for at least three hematopoietic growth and survival factors (8).
Subcellular location: Cytoplasm, Nucleus
Synonyms: bA80I15.1, FA 3, FA3, FAC, FACC, FANCC, FANCC_HUMAN, Fanconi anemia complementation group C, Fanconi anemia complementation group C protein, Fanconi anemia group C protein, Fanconi pancytopenia type 3, FLJ14675, Protein FACC.
Target Information: 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, Jul 2008]