RecName: Full=Fanconi-associated nuclease 1; AltName: Full=FANCD2/FANC - Protein

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FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism. [Proc Natl Acad Sci U S A. 2023]
FAN1 removes triplet repeat extrusions via a PCNA- and RFC-dependent mechanism.
Phadte AS, Bhatia M, Ebert H, Abdullah H, Elrazaq EA, Komolov KE, Pluciennik A. Proc Natl Acad Sci U S A. 2023 Aug 15; 120(33):e2302103120. Epub 2023 Aug 7.
Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1. [Kidney Int. 2022]
Persistent DNA damage underlies tubular cell polyploidization and progression to chronic kidney disease in kidneys deficient in the DNA repair protein FAN1.
Airik M, Phua YL, Huynh AB, McCourt BT, Rush BM, Tan RJ, Vockley J, Murray SL, Dorman A, Conlon PJ, et al. Kidney Int. 2022 Nov; 102(5):1042-1056. Epub 2022 Aug 2.
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset. [Nat Neurosci. 2022]
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, et al. Nat Neurosci. 2022 Apr; 25(4):446-457. Epub 2022 Apr 4.

RefSeq genomic sequence
See the genomic reference sequence for the FAN1 gene (NG_032946.2).
RefSeq protein isoforms
See 24 reference sequence protein isoforms for the FAN1 gene.

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Q9Y2M0 [Domain Mapping of Disease Mut...]
Q9Y2M0
Domain Mapping of Disease Mutations
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RecName: Full=Fanconi-associated nuclease 1; AltName: Full=FANCD2/FANCI-associat...
RecName: Full=Fanconi-associated nuclease 1; AltName: Full=FANCD2/FANCI-associated nuclease 1; Short=hFAN1; AltName: Full=Myotubularin-related protein 15
gi|160410012|sp|Q9Y2M0.4|FAN1_HUMAN

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