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Merck

FANCA

Fanconi anemia, complementation group A

Synonyms:
FA, FA-H, FA1, FAA, FACA, FAH, FANCH
Species:
Human FANCA (2175), Mouse Fanca (14087), Rat Fanca (361435), Horse FANCA (100052495), cow FANCA (618375), sheep FANCA (101111995), dog FANCA (608713), domestic guinea pig Fanca (100732330), domestic cat FANCA (101081431), chicken FANCA (415854) ...More
UniProtKB ID:
O15360, A5D923, O75266, Q6PL10, Q92497, Q96H18, Q9UEA5, Q9UEL8
Gene ID:
  • Human(2175) Summary: 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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
  • Mouse(14087) Fanconi anemia, complementation group A
  • Rat(361435) Fanconi anemia, complementation group A
  • Horse(100052495) Fanconi anemia, complementation group A
  • cow(618375) Fanconi anemia, complementation group A
  • sheep(101111995) Fanconi anemia, complementation group A
  • dog(608713) Fanconi anemia, complementation group A
  • domestic guinea pig(100732330) Fanconi anemia, complementation group A
  • domestic cat(101081431) Fanconi anemia, complementation group A
  • chicken(415854) Fanconi anemia, complementation group A
  • Zebrafish(692125) Fanconi anemia, complementation group A
  • naked mole-rat(101700504) Fanconi anemia, complementation group A

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