Analysis of NBN Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1865-LGZ)

Introduction

Official Full Name: nibrin<br />Also known as: ATV; NBS; P95; NBS1; AT-V1; AT-V2<br />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 of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation.