Domain

Fanconi anaemia group A protein, N-terminal domain (IPR031729)

Short name: Fanconi_A_N

Domain relationships

None.

Description

Fanconi anaemia (FA) [PMID: 1641028, PMID: 8490620, PMID: 7929819] 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 [PMID: 7929819]. Four complementation groups have been identified, designated A to D. The FA group A gene (FAA, FACA, FANCA) has been cloned [PMID: 9169126], but its function remains to be elucidated.

This entry represents the N-terminal domain of FANCA.

Contributing signatures

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