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
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)[1] Band 18p11.32 Start 2,655,726 bp[1] End 2,805,017 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E1.3 Start 71,651,484 bp[2] End 71,782,338 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon epithelium of colon blood bone marrow cell 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 BioGPS 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 Species Human Mouse 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 Mb Chr 17: 71.65 – 71.78 Mb PubMed search [3] [4]
Wikidata
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Without maternal SMCHD1 in the egg cell, children bear with altered skeletal structures.^[10][11]