Stockpile
Store at -20℃. Avoid freeze / thaw cycles.
Buffer: PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
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 A. Alternative splicing results in multiple transcript variants
encoding different isoforms. Mutations in this gene are the most common cause of Fanconi
anemia.
