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Protein Page:
FANCA (human)

Overview
FANCA DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Defects in FANCA are a cause of Fanconi anemia (FA). FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage
Chromosomal Location of Human Ortholog: 16q24.3
Cellular Component: nucleoplasm; nucleus
Molecular Function: protein binding
Biological Process: DNA repair; protein complex assembly
Disease: Fanconi Anemia, Complementation Group A; Tracheoesophageal Fistula With Or Without Esophageal Atresia
Reference #:  O15360 (UniProtKB)
Alt. Names/Synonyms: FA; FA-H; FA1; FAA; FACA; FAH; FANCA; FANCH; Fanconi anemia group A protein; Fanconi anemia, complementation group A; Fanconi anemia, complementation group H; Fanconi anemia, type 1; MGC75158; Protein FACA
Gene Symbols: FANCA
Molecular weight: 162,775 Da
Basal Isoelectric point: 6.13  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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FANCA

Protein Structure Not Found.


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