Fanconi Anemia Complementation Group L (FANCL)

PHF9 was the first Fanconi anemia protein identified by a biochemical approach and the first Fanconi anemia protein with a defined enzymatic activity. In the Fanconi anemia core complex, which senses exogenous DNA damage associated with DNA replication, PHF9 had been designated FAAP43.The deduced 373-amino acid protein, which contains 3 potential WD40 repeats and a PHD-type zinc finger motif, shares 80% sequence identity with its mouse homolog.PHF9 is a stable component of the FA core complex. They detected PHF9 in both the nuclear and cytoplasmic extracts of wildtype cells; however, in lysates from 2 FANCA cell lines, the level of PHF9 was markedly lower than wildtype in the nuclear extract but was normal in the cytoplasm, suggesting that the nuclear accumulation of PHF9 depends on FANCA.