BUBR1 is a human gene whose product bUB1 (Budding Uninhibited by Benzimidazoles 1) is a serine/threonine-protein kinase that plays a critical role in the mitotic checkpoint (spindle assembly checkpoint), ensuring proper chromosome segregation during cell division[@yu2007]. Variants in BUBR1 have been implicated in Cancer, Congenital Disorders, Neurodegeneration. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
Function
BUB1 (Budding Uninhibited by Benzimidazoles 1) is a serine/threonine-protein kinase that plays a critical role in the mitotic checkpoint (spindle assembly checkpoint), ensuring proper chromosome segregation during cell division[@yu2007].
BUBR1 is a human gene whose product bUB1 (Budding Uninhibited by Benzimidazoles 1) is a serine/threonine-protein kinase that plays a critical role in the mitotic checkpoint (spindle assembly checkpoint), ensuring proper chromosome segregation during cell division[@yu2007]. Variants in BUBR1 have been implicated in Cancer, Congenital Disorders, Neurodegeneration. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
Function
BUB1 (Budding Uninhibited by Benzimidazoles 1) is a serine/threonine-protein kinase that plays a critical role in the mitotic checkpoint (spindle assembly checkpoint), ensuring proper chromosome segregation during cell division[@yu2007].
Key Molecular Functions
Checkpoint signaling: BUB1 phosphorylates MAD3/BUBR1 to generate the mitotic checkpoint complex (MCC)[@chen1999]
Kinetochore localization: BUB1 localizes to kinetochores and recruits other checkpoint proteins[@sharpbaker2001]