Nibrin(Phospho Ser343) Polyclonal Antibody, 50ul Cell Separation and Collection Defects in this gene are

Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome

The protein encoded by this gene is similar to a C

q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas

YAP/TEAD complexes regulate the expression of genes involved in cell proliferation and apoptosis

contains structural domains similar to beta chains

Nibrin(Phospho Ser343) Polyclonal Antibody, 50ul Cell Separation and Collection Defects in this gene areMutations 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