BUB1B : BUB1 mitotic checkpoint serine/threonine kinase B

Description

The BUB1B gene plays a crucial role in ensuring accurate chromosome segregation during cell division. It encodes a protein known as BUB1B, a key component of the spindle assembly checkpoint (SAC). The SAC acts as a quality control mechanism, delaying cell cycle progression until all chromosomes are properly attached to the mitotic spindle. BUB1B is involved in recognizing unattached kinetochores, signaling to the SAC, and activating the mitotic checkpoint complex (MCC). This complex inhibits the activity of the anaphase promoting complex (APC/C), preventing premature sister chromatid separation. Thus, BUB1B is essential for maintaining genomic stability and preventing aneuploidy, a condition where cells have an abnormal number of chromosomes.

Associated Diseases

• **Cancer:** Mutations in BUB1B have been linked to an increased risk of various cancers, including colorectal cancer, breast cancer, and ovarian cancer. These mutations can lead to chromosomal instability and uncontrolled cell growth.
• **Developmental disorders:** Defects in BUB1B can contribute to developmental abnormalities, such as intellectual disability and microcephaly. These conditions arise due to errors in chromosome segregation during embryonic development.
• **Other disorders:** BUB1B mutations have also been implicated in disorders like premature ovarian failure and infertility.

Did you know?

BUB1B‘s role in chromosome segregation is so crucial that even subtle changes in its activity can have significant consequences for cell function and organismal health.