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SMCHD1 Antibody
Rabbit mAb
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| WB, IHC |
|---|---|
| Primary Accession | A6NHR9 |
| Clonality | Monoclonal |
| Other Names | BAMS; FSHD2; Smchd1; |
| Isotype | Rabbit IgG |
| Host | Rabbit |
| Calculated MW | 226374 Da |
| Dilution | WB 1:500~1:2000 IHC 1:50~1:200 |
|---|---|
| Purification | Affinity-chromatography |
| Immunogen | A synthesized peptide derived from human SMCHD1 |
| Description | Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells. |
| Storage Condition and Buffer | Rabbit IgG in phosphate buffered saline , pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. Store at +4°C short term. Store at -20°C long term. Avoid freeze / thaw cycle. |
| Name | SMCHD1 (HGNC:29090) |
|---|---|
| Function | Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin (PubMed:23542155). Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X (By similarity). Required to facilitate Xist RNA spreading (By similarity). Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus (PubMed:23143600). Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation (PubMed:29748383). Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks (PubMed:24790221, PubMed:25294876). Acts by promoting non- homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair (PubMed:25294876). |
| Cellular Location | Chromosome. Note=Recruited to inactivated chromosome X in females by Xist RNA (By similarity). Localizes at sites of DNA damage at double-strand breaks (DSBs) (PubMed:24790221, PubMed:25294876). {ECO:0000250|UniProtKB:Q6P5D8, ECO:0000269|PubMed:24790221, ECO:0000269|PubMed:25294876} |
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Application Protocols
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$ 385.00
$ 195.00
Cat# AP92370
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