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ESCO2 encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Additionally we are shipping ESCO2 Antibodies (22) and many more products for this protein.
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XEco2 is responsible for Smc3 (show SMC3 Proteins) acetylation and sister chromatid cohesion.
This study reveals the dramatic rescue effects of L-leucine stimulation of mTORC1 in RBS cells and supports that normal gene expression and translation requires ESCO2 function.
although many cells required Esco2 to establish cohesion, 10-20% of cells had only weakened cohesion in the absence of Esco2, suggesting that compensatory cohesion mechanisms exist in these cells that undergo a normal mitotic division.
Esco2 depleted zebrafish embryos exhibit features that resemble Roberts Syndrome, including mitotic defects, craniofacial abnormalities and limb truncations.
To Roberts syndrome(RBS), mouse Esco2 turns out to be a cell viability factor, the absence of which results in severe chromosome segregation defects and apoptosis.
ESCO2 may play a vital role in meiosis in both males and females.
Esco2 is needed for cohesin acetylation in PCH and that this modification is required for the proper distribution of cohesin on mitotic chromosomes and for centromeric cohesion
Esco2 promotes neuronal differentiation by repressing Notch (show NOTCH1 Proteins) signaling.
The Esco2 is required for double-strand break (DSB) repair, which is consistent with previous studies in Roberts syndrome(RBS) cells.
the ESCO2 gene mutation responsible for developmental abnormalities maps to chromosome 8p21.
These results demonstrated that the Staf (show ZNF143 Proteins) binding site functioned as the basal transcriptional activator (show Abt1 Proteins) of the S phase-specific gene ESCO2, but other mechanisms are required for cell cycle-dependent expression.
In situ hybridisation on human embryos showed ESCO2 expression in the brain, face, limb, kidney and gonads, which corresponds to the structures affected in Roberts syndrome.
ESCO2 has an S-phase specific role in the maintenance of genome stability
EFO1 (show ESCO1 Proteins) and EFO2 are targeted to different chromosome structures to help establish or maintain sister-chromatid cohesion
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: there is no phenotype-genotype correlation.
We used Western blot analysis to demonstrate the absence of the ESCO2-truncated protein in cells derived from both fetuses and in a lymphoblastoid cell line derived from the parents.
detection of an ESCO2 frameshift mutation in Roberts syndrome in a Pakistani family
Loss of ESCO2 acetyltransferase activity contributes to the pathogenesis of Roberts syndrome/SC phocomelia.
This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome.
establishment of cohesion 1 homolog 2 (S. cerevisiae)
, N-acetyltransferase ESCO2
, establishment of cohesion 1 homolog 2
, ECO1 homolog 2
, un-named hi2865
, unm hi2865