CST, 30566S, SMCHD1 (F7U9Y) Rabbit Monoclonal Antibody

Monoclonal Antibody for studying SMCHD1. Validated for Western Blotting,Simple Western™. Available in 2 sizes. Highly specific and rigorously validated in-house, SMCHD1 (F7U9Y) Rabbit Monoclonal Antibody (CST #30566) is ready to ship. Product Usage Information 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 Available protocols: Western Blotting 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 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 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 Specification REACTIVITY: H M R Mk SENSITIVITY: Endogenous MW (kDa): 220 Source/Isotype: Rabbit IgG