N-acetyltransferase ESCO2; 231-; Establishment of cohesion 1 homolog 2; ECO1 homolog 2; ESCO2

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This ESCO2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 132-161 amino acids from the Central region of human ESCO2.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-ESCO2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Cell Biology

Western Blot (WB), ELISA (EIA), Flow Cytometry (FC/FACS)

WB~~1:1000

ESCO2 Antibody (Center) western blot analysis in mouse stomach tissue lysates (35ug/lane).This demonstrates the ESCO2 antibody detected the ESCO2 protein (arrow).

ESCO2 Antibody (Center) flow cytometric analysis of Hela cells (right histogram) compared to a negative control cell (left histogram).FITC-conjugated goat-anti-rabbit secondary antibodies were used for the analysis.

68307

establishment of sister chromatid cohesion N-acetyltransferase 2

N-acetyltransferase ESCO2

N-acetyltransferase ESCO2

ECO1 homolog 2??[Similar Products]

ESCO2_HUMAN

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, Jul 2008]

ESCO2: Acetyltransferase required for the establishment of sister chromatid cohesion. Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3. Defects in ESCO2 are the cause of Roberts syndrome (RBS). RBS is a rare autosomal recessive disorder characterized by pre- and postnatal growth retardation, microcephaly, bilateral cleft lip and palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. RBS chromosomes have a lack of cohesion involving the heterochromatic C-banding regions around centromeres and the distal portion of the long arm of the Y chromosome (known as premature centromere separation, heterochromatin repulsion or puffing, or RS effect). Defects in ESCO2 are the cause of SC phocomelia syndrome (SCPS); also known as SC pseudothalidomide syndrome. SCPS has a milder phenotype than RBS, with a lesser degree of symmetric limb reduction and additionally includes flexion contractures of various joints, midfacial hemangioma, hypoplastic cartilage of ears and nose, scant silvery-blond hair, and cloudy corneae. Although microcephaly is present, mental retardation may be mild and survival into *****hood is common. Belongs to the acetyltransferase family. GCN5 subfamily.

Protein type: EC 2.3.1.-; DNA replication; Acetyltransferase

Chromosomal Location of Human Ortholog: 8p21.1

Cellular Component: XY body; nucleoplasm; Golgi apparatus; chromatin; nucleus; chromocenter

Molecular Function: lysine N-acetyltransferase activity; metal ion binding

Biological Process: double-strand break repair; hemopoietic progenitor cell differentiation; mitotic cell cycle; chromosome segregation; regulation of DNA replication

Disease: Roberts Syndrome; Sc Phocomelia Syndrome

Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :
Nishihara, M., et al. Biochem. Biophys. Res. Commun. 393(1):111-117(2010)
Vega, H., et al. J. Med. Genet. 47(1):30-37(2010)
Terret, M.E., et al. Nature 462(7270):231-234(2009)
van der Lelij, P., et al. PLoS ONE 4 (9), E6936 (2009) :

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