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SMCHD1 encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. Additionally we are shipping SMCHD1 Kits (2) and and many more products for this protein.
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Human Polyclonal SMCHD1 Primary Antibody for ICC, IF - ABIN4354780
Lemmers, Tawil, Petek, Balog, Block, Santen, Amell, van der Vliet, Almomani, Straasheijm, Krom, Klooster, Sun, den Dunnen, Helmer, Donlin-Smith, Padberg, van Engelen, de Greef, Aartsma-Rus, Frants et al.: Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. ... in Nature genetics 2012
This study demonstrated that the hinge domain of Smchd1 probably adopts an unconventional homodimeric arrangement augmented by an intermolecular coiled coil formed between the two monomers.
An indirect interaction mediated by the LRIF1 (show C1orf103 Antibodies) and HP1 (show CBX5 Antibodies) proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 (show HIST3H3 Antibodies) lysine 9 (H3K9me3).
Data suggest that structural maintenance of chromosomes flexible hinge domain containing 1 (Smchd1) imparts epigenetic regulation via physical association with chromatin.
SmcHD1 is an important regulator of imprinted and clustered genes
Genome-wide expression analysis showed that Smchd1 is required for the silencing of around 10% of the genes on the inactive X chromosome, apparently independent of CpG island hypomethylation, and, moreover, that these genes nonrandomly occur in clusters.
Smchd1-dependent CGI methylation, the primary pathway, is acquired gradually over an extended period, whereas Smchd1-independent CGI methylation occurs rapidly after the onset of X inactivation
Reduced dosage of the modifiers of epigenetic reprogramming Dnmt1 (show DNMT1 Antibodies), Dnmt3L (show TRDMT1 Antibodies), SmcHD1 and Foxo3a (show FOXO3 Antibodies) has no detectable effect on mouse telomere length in vivo.
SmcHD1 is not required for correct Xist expression, but localizes to the inactive X and has a role in the maintenance of X inactivation and the hypermethylation of CpG islands associated with the inactive X.
Study identified novel SMCHD1 mutations in a Japanese cohort of facioscapulohumeral muscular dystrophy 2 patients, confirming the presence of this disease in a wider population than previously known
This study demonstrated that the the linkage peak revealed a variant (rs574972) within an intron of the gene SMCHD1 is linkaged to major depression in Mexican Americans.
The synergistic effect has been demonstrated of two SMCHD1 variants on D4Z4 hypomethylation site and disease penetrance in facioscapulohumeral muscular dystrophy-2 patients.
In the case of FSHD1, a contraction of the D4Z4 repeat array is disease causing whereas FSHD2 is most often caused by mutations in the structural maintenance of chromosomes hinge domain 1 (SMCHD1) gene.
Two facioscapulohumeral muscular dystrophy type 2 families with a 1.2-Mb deletion encompassing the SMCHD1 gene are described; they have only one copy of SMCHD1.
An indirect interaction mediated by the LRIF1 (show C1orf103 Antibodies) and HP1 (show DEFA1 Antibodies) proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 (show HIST3H3 Antibodies) lysine 9 (H3K9me3).
findings confirm the role of SMCHD1 mutations in FSHD2 and as a modifier of disease severity.
This approach was successfully employed in the context of the in silico prediction of potential remotely acting regulatory elements for the SMCHD1 gene. Subsequent sequencing of these predicted regions identified three sequence variants in FSHD patients
SMCHD1 recruitment to DNA damage foci is regulated by 53BP1 (show TP53BP1 Antibodies).
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family.
structural maintenance of chromosomes flexible hinge domain-containing protein 1
, SMC hinge domain-containing protein 1