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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 Antibodies (10) and and many more products for this protein.
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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 ELISA Kits) and HP1 (show CBX5 ELISA Kits) proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 (show HIST3H3 ELISA Kits) 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 ELISA Kits), Dnmt3L (show TRDMT1 ELISA Kits), SmcHD1 and Foxo3a (show FOXO3 ELISA Kits) 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.
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 ELISA Kits) and HP1 (show DEFA1 ELISA Kits) proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 (show HIST3H3 ELISA Kits) 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 ELISA Kits).
study reports a novel mutation p.Lys275del in SMCHD1 in a family with facioscapulohumeral muscular dystrophy 2; conclude that the SMCHD1 mutation is the likely cause of the disease in this family
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