SMCHD1

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]

SMCHD1
Identifiers
AliasesSMCHD1, structural maintenance of chromosomes flexible hinge domain containing 1, BAMS, FSHD2
External IDsOMIM: 614982 MGI: 1921605 HomoloGene: 23665 GeneCards: SMCHD1
Gene location (Human)
Chr.Chromosome 18 (human)[1]
Band18p11.32Start2,655,738 bp[1]
End2,805,017 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

23347

74355

Ensembl

ENSG00000101596

ENSMUSG00000024054

UniProt

A6NHR9

Q6P5D8

RefSeq (mRNA)

NM_015295

NM_028887

RefSeq (protein)

NP_056110

NP_083163

Location (UCSC)Chr 18: 2.66 – 2.81 MbChr 17: 71.34 – 71.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

References
  1. GRCh38: Ensembl release 89: ENSG00000101596 - Ensembl, May 2017
  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.
  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.

Further reading
  • Jansz N, Chen K, Murphy JM, Blewitt ME (2017). "The Epigenetic Regulator SMCHD1 in Development and Disease". Trends Genet. 33 (4): 233–243. doi:10.1016/j.tig.2017.01.007. PMID 28222895.
  • 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)
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