Anti-ESCO2 Antibody

ESCO2 is also known as Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2, EFO2. This gene encodes a member of the family of acetyltransferases involved in the establishment of sister chromatid cohesion during S phase and postreplicative sister chromatid cohesion induced by double-strand breaks (PubMed: 15821733) . Mutations in the ESCO2 gene are associated with a rare genetic disorder called Roberts syndrome or SC phocomelia syndrome (PubMed: 16380922) . The loss of function or impaired activity of the ESCO2 protein due to mutations disrupts the proper cohesion of sister chromatids, leading to chromosomal abnormalities and the characteristic features of Roberts syndrome. ESCO2 can be detected as about 65-70 kDa.