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Validated All-in-One™ qPCR Primer for ESCO2(NM_001017420.2) Search again
Product ID:
HQP003826
(click here to view gene annotation page)
Species:
Human
Symbol:
Alias:
2410004I17Rik, EFO2, EFO2p, JHS, RBS, hEFO2
Gene Description:
establishment of sister chromatid cohesion N-acetyltransferase 2
Target Gene Accession:
NM_001017420.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
Summary
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. [provided by RefSeq].
Gene References into function
- required for the establishment of sister chromatid cohesion during S phase
- EFO1 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.
- These results suggest a novel function of Esco2 in transcription repression through modulation of the chromatin structure.
