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Fanconi anemia, complementation group L (FANCL)

Defects in FANCL are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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.

Meetei et al. (2003) detected little or no PHF9 protein in a cell line (EURA868) from an individual with Fanconi anemia of unassigned complementation group (subsequently designated FANCL). The phenotype of the cells from EURA868 resembled that of other Fanconi anemia cells, including the absence of monoubiquitinated FANCD2 (613984) and hypersensitivity to mitomycin C. These Fanconi anemia defects were corrected by ectopic expression of PHF9. Ali et al. (2009) reported a male patient with FANCL who had developmental delay, a cafe-au-lait spot, mild hypocellularity, and a family history of leukemia.

OTHER NAME(S): FANCONI ANEMIA-ASSOCIATED POLYPEPTIDE, 43-KD

ABREVIATION(S):
FA-L
FAAP43
PHF9

TYPE: skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, hypersensitivity to DNA-damaging agents, bone marrow failure

Related patway(s): Fanconi anemia (FA) pathway

DNAtraffic protein(s) related to disease: FANCL

OMIM: 614083

Last modification date: Aug. 24, 2011