Research indicates that FANCF is involved in DNA repair, either with post-replication repair or a cell cycle checkpoint function. FANCF has also been implicated in inter-strand DNA cross-link repair and in the maintenance of normal chromosome stability.
Defects in FANCF are a cause of Fanconi anemia (FA). FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopaenia, 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.
Applications:
Suitable for use in ELISA and Immunohistochemistry (paraffin). Other applications not tested.
Recommended Dilution:
Immunohistochemistry (paraffin): 2.5ug/ml
ELISA: 1:15,000-1:60,000
Requires antigen retrieval using heat treatment prior to staining of paraffin sections.
Optimal dilutions to be determined by the researcher.
Positive Control: Human kidney
Storage and Stability:
May be stored at 4 degrees C for short-term only. For long-term storage and to avoid repeated freezing and thawing, add sterile 40-50% glycerol, aliquot and store at -20 degrees C. Aliquots are stable for at least 12 months at -20 degrees C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.
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