BCOR : BCL6 corepressor

Description

The BCOR (BCL6 corepressor) is a protein-coding gene located on chromosome X.

The BCOR gene provides instructions for making a protein known as the BCL6 corepressor. This protein cannot attach to DNA directly but interacts with other DNA-binding proteins to suppress the activity of specific genes. The BCL6 corepressor works in conjunction with the DNA-binding protein produced by the BCL6 gene, which plays a crucial role in the function and survival of certain immune system cells. The BCOR gene is active throughout the body, not just in the immune system, suggesting that the BCL6 corepressor has additional functions beyond its interaction with the BCL6 protein. This corepressor seems to play a vital role in early embryonic development, including the formation of the eyes and several other tissues and organs. Scientists believe that the BCL6 corepressor might also be involved in defining the left and right sides of the developing embryo.

The BCOR gene product, BCL-6 corepressor, is a transcriptional corepressor that specifically inhibits gene expression. It is recruited to promoter regions by sequence-specific DNA-binding proteins like BCL6 and MLLT3. The repression is partially mediated by histone deacetylase activities associated with the corepressor. BCOR is involved in repressing TFAP2A, preventing the binding of BCL6 and KDM2B to the TFAP2A promoter. Through the repression of TFAP2A, BCOR acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells. This function involves inhibiting methylation on histone H3 Lys-4 (H3K4me3) and Lys-36 (H3K36me2).

BCOR is also known as ANOP2, MAA2, MCOPS2.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing