Nibrin Polyclonal Antibody, 50ul[BT-AP06020] Recombinant Protein Expression Mutations inCSF1R have been associated

Mutations inCSF1R have been associated with a predisposition to myeloid malignancy

and peripheral blood leukocytes

This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse

suggesting that it may have a role in transcription regulation

Nibrin Polyclonal Antibody, 50ul[BT-AP06020] Recombinant Protein Expression Mutations inCSF1R have been associatedMutations in NBN are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. Nibrin is a member of the MRE11 RAD50 double strand break repair complex which consists of 5 proteins. NBN product is thought to be involved in DNA double strand break repair and DNA damage induced checkpoint activation.