Smchd1 - structural maintenance of chromosomes flexible hinge domain containing 1

Predicted to enable protein homodimerization activity. Predicted to be involved in inactivation of X chromosome by heterochromatin assembly; nose development; and regulation of double-strand break repair. Predicted to act upstream of or within dosage compensation by inactivation of X chromosome. Predicted to be located in site of double-strand break. Predicted to be active in Barr body. Predicted to colocalize with chromosome, telomeric region. Human ortholog(s) of this gene implicated in facioscapulohumeral muscular dystrophy 2. Orthologous to human SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]