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Gene Review

SMCHD1  -  structural maintenance of chromosomes...

Homo sapiens

Synonyms: KIAA0650, SMC hinge domain-containing protein 1, Structural maintenance of chromosomes flexible hinge domain-containing protein 1

Disease Relevance

Gene Dosage - This gene is likely to be dosage sensitive. This gene product is important for the maintenance of X inactivation meaning females are more seriously affected by hemizygosity of this gene. Heterozygous knock-out mice of both sexes have reduced gene transcription [1].



  1. SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation. Blewitt, M.E., Gendrel, A.V., Pang, Z., Sparrow, D.B., Whitelaw, N., Craig, J.M., Apedaile, A., Hilton, D.J., Dunwoodie, S.L., Brockdorff, N., Kay, G.F., Whitelaw, E. Nat. Genet. (2008) [Pubmed]
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