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SMCHD1 (F4G6Y) Rabbit mAb #30625

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  • WB
  • IP

    Supporting Data

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

    Product Information

    Product Description

    MW (kDa) 220

    Product Usage Information

    Application Dilution
    Western Blotting 1:1000
    Immunoprecipitation 1:100

    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 (F4G6Y) Rabbit mAb recognizes endogenous levels of total SMCHD1 protein. This antibody is expected to detect only isoform 1 of SMCHD1.

    Species Reactivity:

    Human, Monkey

    Source / Purification

    Monoclonal antibody is produced by immunizing animals with a synthetic peptide corresponding to residues near the carboxy terminus 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).

    Importantly, various post-translational modifications such as phosphorylation, ubiquitination, and SUMOylation on SMCHD1 have been identified (12-14).
    For Research Use Only. Not for Use in Diagnostic Procedures.
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