الوصف
Background Information：
Fanconi anemia (FA) is an autosomal recessive disorder characterized by bone marrow failure, birth defects and chromosomal
instability.At the cellular level, FAis characterized by spontaneous chromosomal breakage and a unique hypersensitivity to
DNAcross-linking agents.At least eight complementation groups (A-G) have been identified and six FAgenes (for subtypes
A, C, D2, E, F and G) have been cloned. The FA proteins lack sequence homologies or motifs that could point to a molecular function.
The cellular accumulation of FA proteins, including FANCA and FANCG, is subject to regulation by TNF alpha signaling.
Phosphorylation of FANC (Fanconi anemia complementation group) proteins is thought to be important for the function of the
FApathway. FANCA, also known as FACAand FANCH, associates with the Brm-related gene 1 (BRG1) product, a subunit of
the SWI/SNF complex which remodels chromatin structure through a DNA-dependent ATPase activity. FANCAis mainly expressed
in lymphoid tissues, testis and ovary. The amino-terminal region of the FANCAprotein is required for FANCG binding, FANCC binding,
nuclear localization and functional activity of the complex. The human FANCAgene maps to chromosome 16q24.3 and encodes a
1,455 amino acid protein..
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