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Immunogen sequence: ALKNRQELYA LPPPPQFYSS LIEEIGTLGW DKLVYADTCF STIKLKAEDA SGREHLITLK LKAKYPAESP DYFVDFPVPF C
Highest antigen sequence identity to the following orthologs: Mouse - 65%, Rat - 67%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: E3 ubiquitin-protein ligase FANCL; FAAP43; Fanconi anemia group L protein; Fanconi anemia, complementation group L; Fanconi anemia-associated polypeptide of 43 kDa; FLJ10335; PHD finger protein 9; RING-type E3 ubiquitin transferase FANCL
基因别名: FAAP43; FANCL; PHF9; POG
UniProt ID: (Human) Q9NW38
Entrez Gene ID: (Human) 55120