Aliases for SMCHD1 Gene
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
GeneCards Summary for SMCHD1 Gene
SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1) is a Protein Coding gene. Diseases associated with SMCHD1 include Bosma Arhinia Microphthalmia Syndrome and Facioscapulohumeral Muscular Dystrophy 2.
UniProtKB/Swiss-Prot for SMCHD1 Gene
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 (PubMed:23143600).