Mouse anti-Human sapiens (Human) FANCC Monoclonal Antibody

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

Subcellular Location

Nucleus; Cytoplasm

Disease Association

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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Ubiquitous

Subunit

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. This complex may also include HSP70. The complex is not found in FA patients. Interacts with ZBTB32. Upon IFNG induction, interacts with STAT1. Interacts with CDK1. Interacts with EIF2AK2; interaction between FA variants and EIF2AK2 may lead to augmented EIF2AK2 activation and cell death

• Strathdee C.A. et al. Cloning of cDNAs for Fanconi's anaemia by functional complementation. — Nature (1992)
• Strathdee C.A. et al. PubMed: 1641028 — Nature (1992)
• Gibson R.A. et al. Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. — Hum. Mol. Genet. (1993)
• PubMed: CI-9GAL9GH7V57OH (JAN-)
• Humphray S.J. et al. DNA sequence and analysis of human chromosome 9. — Nature (2004)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Yamashita T. et al. The Fanconi anemia polypeptide FACC is localized to the cytoplasm. — Proc. Natl. Acad. Sci. U.S.A. (1994)