SMCHD1 Antibodies

Target Information

Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture. Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments. Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin. Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X. Required to facilitate Xist RNA spreading. Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus. Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation. Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks. Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair. Belongs to the SMC family. Highly divergent. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.

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