Peptide sequence: ASGREHLITL KLKAKYPAES PDYFVDFPVP FCASWTPQVN SPQSSLISIY
Sequence homology: Dog: 93%; Human: 100%; Rabbit: 86%
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.
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Protein Aliases: complementation group L; E3 ubiquitin-protein ligase FANCL; FAAP43; Fanconi anemia; Fanconi anemia group L protein; Fanconi anemia, complementation group L; Fanconi anemia-associated polypeptide of 43 kDa; FLJ10335; PHD finger protein 9; PHF9; POG; RING-type E3 ubiquitin transferase FANCL
Gene Aliases: FAAP43; FANCL; PHF9; POG
UniProt ID: (Human) Q9NW38