Literature associating SMCHD1 and chromosome 18p deletion syndrome
Structural maintenance of chromosomes flexible hinge domain-containing protein 1; Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells.
Synonyms: SMCHD1, SMCHD1p, hSMCHD1, A6NHR9, J3KTL8 ...