Family

Fanconi anemia group I protein (IPR026171)

Short name: FANCI

Family relationships

None.

Description

Fanconi anemia complementation group I (FANCI) protein is a component of the Fanconi anemia DNA damage-response pathway [PMID: 17460694]. The protein directly binds to a variety of DNA substrates [PMID: 19561358] and plays an essential role in the repair of DNA double-strand breaks by homologous recombination. It is also involved in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL [PMID: 19561358].

Defects in the FANCI gene are a cause of Fanconi anemia complementation group I [PMID: 17452773] - 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.

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.
PANTHER