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.^[5]^[6] Mutations in SMCHD1 are causative for development of facioscapulohumeral muscular dystrophy type 2 (FSHD2)^[7] and Bosma arhinia microphthalmia syndrome (BAMS).^[8]^[9]

Without maternal SMCHD1 in the egg cell, children bear with altered skeletal structures.^[10]^[11]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000101596 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024054 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Reference, Genetics Home. "SMCHD1 gene". Genetics Home Reference. United States National Library of Medicine. Retrieved 2020-07-10.
^ "Entrez Gene: SMCHD1". Retrieved 2020-06-09.
^ Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, et al. (November 2012). "Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2". Nat Genet. 44 (12): 1370–4. doi:10.1038/ng.2454. PMC 3671095. PMID 23143600.
^ Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, et al. (February 2017). "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development" (PDF). Nat Genet. 49 (2): 249–255. doi:10.1038/ng.3765. PMID 28067911. S2CID 205353193.
^ Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, et al. (February 2017). "SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome". Nat Genet. 49 (2): 238–248. doi:10.1038/ng.3743. PMC 5473428. PMID 28067909.
^ WEHI (2022). "Rewriting Our Understanding of Epigenetics: Scientists Reveal We Inherit More Than Previously Thought". Nature Communications. 13 (1). SciTech Daily: 4295. doi:10.1038/s41467-022-32057-x. PMC 9314430. PMID 35879318. Retrieved September 13, 2022.
^ Xue, Shifeng; Ly, Thanh Thao Nguyen; Vijayakar, Raunak S.; Chen, Jingyi; Ng, Joel; Mathuru, Ajay S.; Magdinier, Frederique; Reversade, Bruno (2022-06-23). "HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring". Nature Communications. 13 (1): 3583. Bibcode:2022NatCo..13.3583X. doi:10.1038/s41467-022-31185-8. ISSN 2041-1723. PMC 9226161. PMID 35739109.

External links

PDBe-KB provides an overview of all the structure information available in the PDB for Structural Maintenance of Chromosomes flexible Hinge Domain Containing 1 (SMCHD1)

This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by expanding it.

This protein-related article is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000101596 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024054 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Reference, Genetics Home. "SMCHD1 gene". Genetics Home Reference. United States National Library of Medicine. Retrieved 2020-07-10.

[entrez-6] "Entrez Gene: SMCHD1". Retrieved 2020-06-09.

[7] Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, et al. (November 2012). "Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2". Nat Genet. 44 (12): 1370–4. doi:10.1038/ng.2454. PMC 3671095. PMID 23143600.

[8] Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, et al. (February 2017). "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development" (PDF). Nat Genet. 49 (2): 249–255. doi:10.1038/ng.3765. PMID 28067911. S2CID 205353193.

[9] Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, et al. (February 2017). "SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome". Nat Genet. 49 (2): 238–248. doi:10.1038/ng.3743. PMC 5473428. PMID 28067909.

[10] WEHI (2022). "Rewriting Our Understanding of Epigenetics: Scientists Reveal We Inherit More Than Previously Thought". Nature Communications. 13 (1). SciTech Daily: 4295. doi:10.1038/s41467-022-32057-x. PMC 9314430. PMID 35879318. Retrieved September 13, 2022.

[11] Xue, Shifeng; Ly, Thanh Thao Nguyen; Vijayakar, Raunak S.; Chen, Jingyi; Ng, Joel; Mathuru, Ajay S.; Magdinier, Frederique; Reversade, Bruno (2022-06-23). "HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring". Nature Communications. 13 (1): 3583. Bibcode:2022NatCo..13.3583X. doi:10.1038/s41467-022-31185-8. ISSN 2041-1723. PMC 9226161. PMID 35739109.

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Further reading

External links