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- Table of Contents
Facts about Structural maintenance of chromosomes flexible hinge domain-containing protein 1.
Required for DUX4 silencing in somatic cells (PubMed:23143600). .
Human | |
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Gene Name: | SMCHD1 |
Uniprot: | A6NHR9 |
Entrez: | 23347 |
Belongs to: |
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SMC family |
DKFZp686O0631; KIAA0650; structural maintenance of chromosomes flexible hinge domain containing 1; structural maintenance of chromosomes flexible hinge domain-containing protein 1
Mass (kDA):
226.374 kDA
Human | |
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Location: | 18p11.32 |
Sequence: | 18; NC_000018.10 (2655726..2805017) |
Chromosome. Recruited to inactivated chromosome X in females by Xist RNA (By similarity). Localizes at sites of DNA damage at double-strand breaks (DSBs) (PubMed:25294876, PubMed:24790221).
PMID: 23542155 by Nozawa R.S., et al. Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway.
PMID: 25294876 by Tang M., et al. Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) promotes non-homologous end joining and inhibits homologous recombination repair upon DNA damage.