Anti-SMCHD1 antibody [EPR12340]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

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.

Associated diseases and disorders

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.