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FLASH GENE
Symbol RFC1 contributors: mct - updated : 29-03-2018
HGNC name replication factor C (activator 1) 1, 145kDa
HGNC id 9969
ASSOCIATED DISORDERS
corresponding disease(s) CANVAS
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • large subunit (RFC1) of replication factor C is cleaved in HGPS cells, leading to the production of a truncated RFC1 of ~ 75 kDa, and unique truncated form of RFC1 may serve as a potential marker for Hutchinson-Gilford progeria syndrome (HGPS) (HGPS)
    • Therapy target
    ANIMAL & CELL MODELS