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

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

Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Small volumes of ESCO2 blocking peptide 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.

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.

27,500 Da

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: Acetyltransferase; EC 2.3.1.-; DNA replication

Chromosomal Location of Human Ortholog: 8p21.1

Cellular Component: chromatin; Golgi apparatus; nucleoplasm; nucleus

Molecular Function: N-acetyltransferase activity

Biological Process: regulation of DNA replication

Disease: Roberts Syndrome; Sc Phocomelia Syndrome

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