Abcam, ab122555, Anti-SMCHD1 antibody

Size: 100µL
Rabbit Polyclonal SMCHD1 antibody. Suitable for IHC-P, WB, ICC/IF and reacts with Human samples. Cited in 6 publications. Immunogen corresponding to Recombinant Fragment Protein within Human SMCHD1 aa 150-300.
Key facts
Host species:Rabbit,
Clonality:Polyclonal,
Isotype:IgG,
Carrier free:No,
Reacts with:Human,
Applications:ICC/IF, IHC-P, WBSee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Immunogen:Recombinant Fragment Protein within Human SMCHD1 aa 150-300. The exact immunogen used to generate this antibody is proprietary information.A6NHR9

Properties and Storage Information:
Form-Liquid, Purification technique-Affinity purification Immunogen, Storage buffer-pH: 7.2Preservative: 0.02% Sodium azideConstituents: PBS, 40% Glycerol (glycerin, glycerine), Shipped at conditions-Blue Ice, Appropriate short-term storage conditions-+4°C, Appropriate long-term storage conditions--20°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1 (SMCHD1) is a chromatin-associated protein known by several names including FSHD2 protein. It has an approximate mass of 253 kDa. SMCHD1 functions primarily as an epigenetic repressor; it modifies the chromatin structure by influencing histone positioning. SMCHD1 is expressed abundantly in a variety of tissues including muscle and neural tissues indicating its widespread importance in cellular regulation.
Biological function summary
SMCHD1 modulates gene expression by modifying the chromatin landscape. It is not only involved in chromatin remodeling but also interacts as a part of a larger protein complex that affects transcriptional silencing. By mediating gene silencing SMCHD1 is important for processes such as X-chromosome inactivation in females and the silencing of certain imprinted genes which require precise regulation and inheritance patterns.
Pathways
SMCHD1 plays a role in the epigenetic regulatory pathway influencing genomic imprinting and X-chromosome inactivation. It works alongside proteins such as EZH2 from the Polycomb Repressive Complex 2 (PRC2) and HP1 proteins demonstrating its integration in chromatin organization and gene expression control. Studies show that SMCHD1 has a relationship with pathways directed by these proteins highlighting its collaborative regulation of chromatin architecture.
SMCHD1 associates with two conditions: facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS). FSHD2 involves mutations in SMCHD1 leading to misregulated expression of DUX4 a protein linked to muscle degeneration while BAMS relates to developmental defects due to disrupted chromatin dynamics. SMCHD1's connection with these conditions underlines its significant role in maintaining proper genomic function and highlights its potential as a target for therapeutic interventions.