Synthesized phosho peptide around human p95 (Ser343)
Alternative Names:
Nibrin (Cell cycle regulatory protein p95) (Nijmegen breakage syndrome protein 1)
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member