Supplied in Phosphate Buffered Saline, pH 7.30, with 0.02% Sodium Azide and 50% Glycerol.
Storage:
Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Target
Function:
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.
Involvement in Disease:
Fanconi anemia, complementation group A: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, 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.
Post-Translational Modification:
Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups A, B, C, E, F, G, and H.
Cellular Location:
Nucleus. Cytoplasm.
The major form is nuclear. The minor form is cytoplasmic.
Database Links:
Entrez Gene: 2175?Human
Omim: 607139?Human
SwissProt: O15360?Human
Unigene: 290154?Human
Synonyms:
FA Antibody
FA 1 Antibody
FA H Antibody
FA1 Antibody
FAA Antibody
FACA Antibody
FAH Antibody
FANCA Antibody
FANCA_HUMAN Antibody
FANCH Antibody
Fanconi anemia complementation group A Antibody
Fanconi anemia complementation group H Antibody
Fanconi anemia group A protein Antibody
Fanconi anemia type 1 Antibody
MGC75158 Antibody
Protein FACA Antibody
Information:
Target information shown above is from the UniProt Consortium.