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. [provided by RefSeq, Jul 2008]
Bone marrow & Lymphoid tissuesBrainBreast and female reproductive systemConnective & Soft tissueEndocrine tissuesEyeGastrointestinal tractKidney & Urinary bladderLiver & GallbladderLymphoidMale reproductive systemMuscle tissuesMyeloidPancreasProximal digestive tractRespiratory systemSkin
* nTPM: Normalized TPM levels represent consensus gene expression calculated using two data sets. Read more RNA data sourced from Human Protein Atlas.