Anti-SMCHD1 Antibody, clone 2B8

Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (UniProt: Q6P5D8; also known as SMC hinge domain-containing protein 1) is encoded by the Smchd1 (also known as Kiaa0650) gene (Gene ID: 74355) in murine species. SMCHD1 is a homodimeric, non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture. It is shown to be essential for X chromosome inactivation. It is recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments. It is reported to localize to the inactive X via the XistHnrnpK-polycomb repressive complex 1 pathway. In addition to its role in X inactivation, it also plays a role in the expression of several autosomal gene clusters that are subject to monoallelic expression. It promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments. SMCHD1 also plays a role in DNA repair. It localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks. It acts by promoting non-homologous end joining and inhibiting homologous recombination repair. Heterozygous mutations in Smchd1 gene have been linked to facioscapulohumeral muscular dystrophy 2, an inherited muscular weakness syndrome. (Ref.: Jansz, N., et al. (2018). Cell Rep. 25(7); 1912-1923; Mould, AW., et al. (2013). Epigenetics Chromatin 6(1); 19; Blewitt, ME., et al. (2008). Nat. Genet. 40(5); 663-669).

Recombinant fragment corresponding to 592 amino acids from the ATPase activity domain from the N-terminal half of murine Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1).

Quality Control Testing

Evaluated by Western Blotting in lysate from wild-type Mouse neuronal stem cells.

Western Blotting Analysis (WB): A 1:500 dilution of this antibody detected Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1) in lysate from wild-type Mouse neuronal stem cells, but not in Smchd1 null cells.

Tested Applications

Western Blotting Analysis: A representative lot detected SMCHD1 in Western Blotting applications (Jansz, N., et. al. (2018). Cell Rep. 25(7):1912-1923).

Immunofluorescence Analysis: A representative lot detected SMCHD1 in Immunofluorescence applications (Jansz, N., et. al. (2018). Cell Rep. 25(7):1912-1923).

Immunoprecipitation Analysis: A representative lot immunoprecipitated SMCHD1 in Immunoprecipitation applications (Jansz, N., et. al. (2018). Cell Rep. 25(7):1912-1923).

Note: Actual optimal working dilutions must be determined by end user as specimens, and experimental conditions may vary with the end user

Anti-SMCHD1, clone 2B8, Cat. No. MABS2292, is a rat monoclonal antibody that detects Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1) and is tested in Immunofluorescence, Immunoprecipitation, and Western Blotting.

Clone 2B8 is a rat monoclonal antibody that detects SMC hinge domain-containing protein 1 (SMCHD1). It targets an epitope within the ATPase activity domain in the N-terminal half.

Purified rat monoclonal antibody IgG2a in buffer containing 0.1 M Tris-Glycine (pH 7.4), 150 mM NaCl with 0.05% sodium azide.

Recommend storage at +2°C to +8°C. For long term storage antibodies can be kept at -20°C. Avoid repeated freeze-thaws.

Concentration: Please refer to the Certificate of Analysis for the lot-specific concentration.

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.