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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.
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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 (显示 C1orf103 抗体) and HP1 (显示 CBX5 抗体) proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 (显示 HIST3H3 抗体) 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 (显示 DNMT1 抗体), Dnmt3L (显示 TRDMT1 抗体), SmcHD1 and Foxo3a (显示 FOXO3 抗体) 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.
We discuss the involvement of this rearrangement in Facioscapulohumeral dystrophy (FSHD), since all mutations in SMCHD1 are not associated with D4Z4 hypomethylation and do not always segregate with the disease
SMCHD1 acts as a repressor on a limited set of autosomal gene clusters, as an observed reduction in methylation associates with a loss of SMCHD1 binding and increased expression for some of the loci.
We summarise here current understanding of the mechanism of action of SMCHD1, its role in these diseases, and what has been learnt from study of mouse models null for Smchd1 in the decade since the discovery of SMCHD1
Mutations in SMCHD1 thus contribute to distinct phenotypic spectra.
SMCHD1 as a key player in nasal development.
SMCHD1 mutations cause Bosma arhinia microphthalmia syndrome.
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.
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