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fancl

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Official Full Name
Fanconi anemia, complementation group L
Background
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms.
Synonyms
FANCL; Fanconi anemia, complementation group L; PHD finger protein 9 , PHF9; E3 ubiquitin-protein ligase FANCL; FAAP43; FLJ10335; Pog; FANCL_HUMAN; Fanconi anemia complementation group L; Fanconi anemia group L protein; Fanconi anemia-associated polypeptide of 43 kDa; PHD finger protein 9; PHF9; Ubiquitin ligase protein FANCL; Fanconi anemia protein FANCL; zgc:66144; zgc:76938

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