Identification of mutations in FAN1 gene underscores recent insights linking inadequate DNA repair and susceptibility to chronic kidney disease.
These findings were highly suggestive of karyomegalic interstitial nephritis, which was further confirmed by exome sequencing of FAN1 gene showing an identified homozygous
[…] frameshift mutation due to a one-base-pair deletion in exon 12 (c.2616delA).The present case illustrates a rare but severe cause of hereditary interstitial nephritis, sometimes
A.C., K.D., and F.H. identified mutations in the human FAN1 gene. F.P.L. performed the breakage and cell cycle analysis.
Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways. Nat. Genet. 37, 537–543 (2005). 22.
KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents. Proc. Natl. Acad. Sci. USA 107, 21553–21557 (2010). 21.
Up to now, no patient was found having mutation with several genes encoding FA pathway-related proteins (including FAN1, FAAP100, and FAAP24).
Because the cellular phenotypes of FAAP20-deficient cells are rather mild compared with FANCL-deficient cells, it is possible that patients with FAAP20 mutation would display
Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome).
Interacts with MTMR15/FAN1. SUBCELLULAR LOCATION: Nucleus (Potential). TISSUE SPECIFICITY: Ubiquitous.