Nibrin Polyclonal Antibody, 20ul[BT-AP06021] Measuring Instruments The product of this gene

The product of this gene (solute carrier family 25 member 6) functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm

The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity

These defects can result in a lifelong bleeding tendency

Mutations in NRXN1 are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia

Nibrin Polyclonal Antibody, 20ul[BT-AP06021] Measuring Instruments The product of this geneMutations 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.