SMCHD1

SMCHD1
Identifiers
Aliases	SMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1, BAMS, FSHD2
External IDs	OMIM: 614982; MGI: 1921605; HomoloGene: 23665; GeneCards: SMCHD1; OMA:SMCHD1 - orthologs
Gene location (Human)
Chr.	Chromosome 18 (human)
End	2,805,017 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	71,782,338 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; epithelium of colon; ; blood; ; bone marrow cells; ; monocyte; ; superficial temporal artery; ; right lung; ; granulocyte; ; jejunal mucosa; ; spleen;
	Top expressed in
	hand; ; genital tubercle; ; ventricular zone; ; tail of embryo; ; cumulus cell; ; vas deferens; ; condyle; ; epiblast; ; spleen; ; Gonadal ridge;
	More reference expression data
	n/a
Gene ontology
Molecular function	ATP binding; ATPase activity; DNA binding; protein binding; hydrolase activity; protein homodimerization activity;
Cellular component	chromosome; Barr body; site of double-strand break;
Biological process	dosage compensation by inactivation of X chromosome; chromosome organization; nose development; double-strand break repair; DNA repair; chromatin organization; cellular response to DNA damage stimulus; positive regulation of DNA repair; inactivation of X chromosome by heterochromatin assembly; negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining;
	Sources:Amigo / QuickGO
Orthologs
	23347
	74355
	ENSG00000101596
	ENSMUSG00000024054
	A6NHR9
	Q6P5D8
	NM_015295
	NM_028887
	NP_056110
	NP_083163
	Wikidata
View/Edit Human	View/Edit Mouse

Structural Maintenance of Chromosomes flexible Hinge Domain Containing 1 (SMCHD1) is a protein that in humans is encoded by the SMCHD1 gene. Mutations in SMCHD1 are causative for development of facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS).

Without maternal SMCHD1 in the egg cell, children bear with altered skeletal structures.