SMCHD1 (F4G6Y) Rabbit Monoclonal Antibody #30625

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).