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FLASH GENE
Symbol FAN1 contributors: mct - updated : 03-09-2020
HGNC name FANCD2/FANCI-associated nuclease 1
HGNC id 29170
ASSOCIATED DISORDERS
corresponding disease(s) KMIN
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
sensitizes cells to cisplatin and mitomycin C
constitutional     --over  
increased FAN1 expression is significantly associated with delayed age at onset (AAO) and slower progression of HD
tumoral germinal mutation      
cause hereditary colorectal cancer by impairing DNA repair
Susceptibility to Fanconi anemia (FA)
Variant & Polymorphism other associates with mono-ubiquitylated FANCI-FANCD2, mutations that may be responsible for FA in a subset of human patients
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS