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SMCHD1 (F7U9Y) Rabbit Monoclonal Antibody #30566

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  • WB

    Product Specifications

    REACTIVITY H M R Mk
    SENSITIVITY Endogenous
    MW (kDa) 220
    Source/Isotype Rabbit IgG
    Application Key:
    • WB-Western Blotting 
    Species Cross-Reactivity Key:
    • H-Human 
    • M-Mouse 
    • R-Rat 
    • Mk-Monkey 

    Product Information

    Product Usage Information

    Application Dilution
    Western Blotting 1:1000
    Simple Western™ 1:10 - 1:50

    Storage

    Supplied in 10 mM sodium HEPES (pH 7.5), 150 mM NaCl, 100 µg/mL BSA, 50% glycerol, and less than 0.02% sodium azide. Store at –20°C. Do not aliquot the antibody.

    Protocol

    Specificity / Sensitivity

    SMCHD1 (F7U9Y) Rabbit Monoclonal Antibody recognizes endogenous levels of total SMCHD1 protein. This antibody is predicted to detect isoforms 1, 2, and 3.

    Species Reactivity:

    Human, Mouse, Rat, Monkey

    Source / Purification

    Monoclonal antibody is produced by immunizing animals with a synthetic peptide corresponding to residues surrounding Pro1792 of human SMCHD1 protein.

    Background

    Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1) is an epigenetic regulator and a noncanonical member of the structural maintenance of chromosomes (SMC) family, containing an N-terminal ATPase domain and a C-terminal hinge domain (1). This protein is critical for both X chromosome inactivation and silencing of clustered autosomal loci (1-5). Heterozygous mutations in SMCHD1 are found in two distinct human disorders, facioscapulohumeral muscular dystrophy (FSHD) and the rare craniofacial disorder, Bosma arhinia and microphthalmia syndrome (BAMS) (6-8). More recently, it has been shown that SMCHD1 is required for long-range chromatin interactions on the inactive X chromosome and at its autosomal targets, including the imprinted loci (9-11). Loss of SMCHD1 in cells results in altered chromatin modifications, DNA hypomethylation, and subsequent perturbations in gene expression. In the absence of SMCHD1, other epigenetic regulators such as CCCTC-binding factor (CTCF) are enriched at SMCHD1 targets (5,10,11).

    Alternate Names

    BAMS; DKFZp686O0631; FSHD2; KIAA0650; SMC hinge domain-containing protein 1; SMCHD1; SMHD1; structural maintenance of chromosomes flexible hinge domain containing 1; Structural maintenance of chromosomes flexible hinge domain-containing protein 1

    For Research Use Only. Not for Use in Diagnostic Procedures.
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