ACTL6A
ACTL6A
ACTL6A (Actin-like protein 6A) is a protein encoded by the ACTL6A gene in humans. This protein is a member of the actin-related protein family and plays a crucial role in chromatin remodeling, which is essential for the regulation of gene expression.
Function
ACTL6A is involved in the SWI/SNF chromatin remodeling complex, which is responsible for altering the structure of chromatin to allow access to DNA for transcription, replication, and repair. The protein acts as a core component of this complex, contributing to its ability to modify chromatin structure and regulate gene expression.
The SWI/SNF complex, with ACTL6A as a part, is known to be involved in various cellular processes, including cell cycle regulation, differentiation, and development. It is also implicated in the response to DNA damage and the maintenance of genomic stability.
Clinical Significance
Mutations or dysregulation of ACTL6A have been associated with several types of cancer, including breast cancer, lung cancer, and glioblastoma. The protein's role in chromatin remodeling makes it a critical factor in the control of genes that regulate cell proliferation and survival, which are often disrupted in cancer.
Research has shown that ACTL6A can influence the epithelial-mesenchymal transition (EMT), a process that is crucial for cancer metastasis. Overexpression of ACTL6A has been linked to poor prognosis in cancer patients, making it a potential target for therapeutic intervention.
Interactions
ACTL6A interacts with several other proteins within the SWI/SNF complex, including BRG1, BRM, and BAF155. These interactions are essential for the assembly and function of the chromatin remodeling complex.
Research
Ongoing research is focused on understanding the precise mechanisms by which ACTL6A contributes to chromatin remodeling and its role in disease. Studies are also exploring the potential of targeting ACTL6A in cancer therapy, given its involvement in tumor progression and metastasis.
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Contributors: Prab R. Tumpati, MD