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Description

Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (UniProt: Q6P5D8, also known as SMC hinge domain-containing protein 1) is encoded by the Smchd1 (also known as Kiaa0650) gene (Gene ID: 74355) in murine species. SMCHD1 is a homodimeric, non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture. It is shown to be essential for X chromosome inactivation. It is recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments. It is reported to localize to the inactive X via the XistHnrnpK-polycomb repressive complex 1 pathway. In addition to its role in X inactivation, it also plays a role in the expression of several autosomal gene clusters that are subject to monoallelic expression. It promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments. SMCHD1 also plays a role in DNA repair. It localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks. It acts by promoting non-homologous end joining and inhibiting homologous recombination repair. Heterozygous mutations in Smchd1 gene have been linked to facioscapulohumeral muscular dystrophy 2, an inherited muscular weakness syndrome. (Ref.: Jansz, N., et al. (2018). Cell Rep. 25(7), 1912-1923, Mould, AW., et al. (2013). Epigenetics Chromatin 6(1), 19, Blewitt, ME., et al. (2008). Nat. Genet. 40(5), 663-669).