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Product Name ESCO2 Chinese Name 罗伯茨综合征相关蛋白抗体 Alias CTF7, S. CEREVISIAE, HOMOLOG OF, 2; ECO1 homolog 2; ECO1, S. CEREVISIAE, HOMOLOG OF, 2; EFO2; ESO1, S. POMBE, HOMOLOG OF, 2; ESTABLISHMENT FACTOR ORTHOLOG 2; EFO2; Establishment of cohesion 1 homolog 2; Establishment of cohesion 1 homolog 2 (S. cerevisiae); N acetyltransferase ESCO2; RBS; Roberts syndrome. Research Area Cell biology Signal transduction Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, (predicted: Human, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 68kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human ESCO2: 101-200/601 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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]
Function:
ESCO2 is an acetyltransferase required for the establishment of sister chromatid cohesion, and 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 S phase. Defects in ESCO2 are the cause of Roberts syndrome (RBS), 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 also the cause of SC phocomelia syndrome, also known as SC pseudothalidomide syndrome. SC phocomelia syndrome 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 adulthood is common.
Subcellular Location:
Nuclear
SWISS:
Q56NI9
Gene ID:
157570
Database links:Entrez Gene: 157570 Human
Omim: 609353 Human
SwissProt: Q56NI9 Human
Unigene: 99480 Human
Product Picture Sample:
Small intestine (Mouse) Lysate at 40 ug
Primary: Anti-ESCO2 (SL14632R) at 1/300 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 68 kD
Observed band size: 68 kD
Paraformaldehyde-fixed, paraffin embedded (Mouse intestine); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (ESCO2) Polyclonal Antibody, Unconjugated (SL14632R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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