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: Andrew O M Wilkie
• Journal: Nature genetics (Nat Genet) Vol. 49 Issue 2 Pg. 176-178 (Jan 31 2017) ISSN: 1546-1718 [Electronic] United States
• PMID: 28138148 (Publication Type: Journal Article)

Chemical References

• Chromosomal Proteins, Non-Histone
• SMCHD1 protein, human

Topics

• Choanal Atresia (genetics, pathology)
• Chromosomal Proteins, Non-Histone (chemistry, genetics)
• DNA Repair
• Gene Expression
• Genetic Pleiotropy
• Genomic Imprinting
• Humans
• Microphthalmos (genetics, pathology)
• Mutation
• Nose (abnormalities, pathology)
• Protein Domains
• Protein Multimerization
• X Chromosome Inactivation