Nibrin Polyclonal Antibody, 20ul[BT-AP06022] Centrifugal Filter Multiple alternatively spliced variants

Multiple alternatively spliced variants

Involved in protein trafficking

A pseudogene COX17P has been found on chromosome 13

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This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes

Nibrin Polyclonal Antibody, 20ul[BT-AP06022] Centrifugal Filter Multiple alternatively spliced variantsMutations 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.