Ontology highlight
ABSTRACT:
SUBMITTER: Ali AM
PROVIDER: S-EPMC2760491 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Ali Abdullah Mahmood AM Kirby Michelle M Jansen Michael M Lach Francis P FP Schulte Jennifer J Singh Thiyam Ramsing TR Batish Sat D SD Auerbach Arleen D AD Williams David A DA Meetei Amom Ruhikanta AR
Human mutation 20090701 7
Fanconi anemia (FA) is a rare autosomal recessive or X-linked disorder characterized by aplastic anemia, cancer susceptibility and cellular sensitivity to DNA crosslinking agents. Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon DNA damage. FANCL possesses a PHD/RING-finger domain and is a putative E3 ubiquitin ...[more]