CBFB : core-binding factor subunit beta


Description

The CBFB (core-binding factor subunit beta) is a protein-coding gene located on chromosome 16.

The CBFB gene provides instructions for making a protein called core binding factor beta (CBFβ), which is one piece of a protein complex known as core binding factor (CBF). CBFβ attaches (binds) to one of three related RUNX proteins (RUNX1, RUNX2, or RUNX3) to form different versions of CBF. These protein complexes bind to specific regions of DNA and help turn on (activate) certain genes. The presence of CBFβ helps the complex bind to DNA and protects the RUNX protein from being broken down. The function of CBF depends on which RUNX protein it includes. Once bound to DNA, the RUNX1 protein controls the activity of genes involved in the development of blood cells (hematopoiesis). The RUNX2 protein regulates genes important for bone cell development and formation of the skeleton. The RUNX3 protein primarily affects genes involved in the development of nerve cells.

The CBFB protein forms a complex called core-binding factor (CBF) with RUNX proteins (RUNX1, RUNX2, and RUNX3). This complex regulates gene expression by binding to specific DNA sequences called enhancers and promoters. CBFB enhances the ability of RUNX proteins to bind DNA. These CBF complexes play a role in the development of blood cells, bone cells, and nerve cells. For example, CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation.

CBFB is also known as CLCD2, PEBP2B.

Associated Diseases


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