Family

Fanconi anaemia group C protein (IPR000686)

Short name: Fanconi

Family relationships

None.

Description

Fanconi anaemia (FA) [PMID: 8490620, PMID: 7929819, PMID: 1574115] is a recessive inherited disease characterised by defective DNA repair. FA cells are sensitive to DNA cross-linking agents that cause chromosomal instability and cell death. The disease is manifested clinically by progressive pancytopenia, variable physical anomalies, and predisposition to malignancy. Four complementation groups have been identified, designated A to D. The gene for group C (FACC) has been cloned. Expression of the FACC cDNA corrects the phenotypic defect of FA(C) cells, resulting in normalized cell growth in the presence of DNA cross-linking agents such as mitomycin C (MMC). Gene transfer of the FACC gene should provide a survival advantage to transduced hematopoietic cells, suggesting that FA might be an ideal candidate for gene therapy [PMID: 7929819]. The function of the FACC gene is not known. Immunofluorescence and sub-cellular fractionation studies of human cell lines, and COS-7 cells transiently expressing human FACC, showed the protein to be located primarily in the cytoplasm. Yet, placement of a nuclear localisation signal at the N terminus of FACC directed the hybrid protein to the nuclei of transfected COS-7 cells. Such findings suggest an indirect role for FACC in regulating DNA repair in this group of Fanconi anaemia [PMID: 8058745].

GO terms

Biological Process

GO:0006281 DNA repair

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam
PANTHER
PRINTS
PIRSF