title: Many faces of SMCHD1.
abstract: The chromatin scaffolding protein SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) was previously shown to have diverse roles in X-chromosome inactivation, imprinting and double-strand break repair, and mutations in SMCHD1 contribute to a type of muscular dystrophy. Now, development of the nose and eyes is added to its list of functions.
authors.affiliation: Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
authors.forename: Andrew O M
authors.identifier: http://orcid.org/0000-0003-0982-8122
authors.initials: AO
authors.lastname: Wilkie
mesh_terms: D002754:Choanal Atresia / Q000235:genetics* / Q000473:pathology; D002868:Chromosomal Proteins, Non-Histone / Q000737:chemistry / Q000235:genetics*; D004260:DNA Repair; D015870:Gene Expression; D058685:Genetic Pleiotropy; D018392:Genomic Imprinting; D006801:Humans; D008850:Microphthalmos / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009666:Nose / Q000002:abnormalities* / Q000473:pathology; D000072417:Protein Domains; D055503:Protein Multimerization; D049951:X Chromosome Inactivation
chemical_list: D002868:Chromosomal Proteins, Non-Histone; C578241:SMCHD1 protein, human