Immunogen sequence: MAVTEASLLR QCPLLLPQNR SKTVYEGFIS AQGRDFHLRI VLPEDLQLKN ARLLCSWQLR TILSGYHRIV QQRMQHSPDL MSFMMELKML LEVALKNRQE LYALPPPPQF YSSLIEEIGT LGWDKLVYAD TCFSTIKLKA EDASGREHLI TLKLKAKYPA ESPDYFVDFP VPFCASWTPQ SSLISIYSQF LAAIESLKAF WDVMDEIDEK TWVLEPEKPP RSATARRIAL GNNVSINIEV DPRHPTMLPE CFFLG; Positive Samples: Mouse thymus; Cellular Location: Cytoplasm, Nucleus
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: E3 ubiquitin-protein ligase FANCL; FAAP43; Fanconi anemia group L protein; Fanconi anemia group L protein homolog; Fanconi anemia, complementation group L; Fanconi anemia-associated polypeptide of 43 kDa; germ cell deficient; PHD finger protein 9; Proliferation of germ cells protein; RING-type E3 ubiquitin transferase FANCL
Gene Aliases: 2010322C19Rik; AW554273; B230118H11Rik; FAAP43; FANCL; gcd; PHF9; POG