MAD2L1-binding protein (MAD2L1BP)

MAD2L1-binding protein (MAD2L1BP), also known as p31(comet), is a highly conserved protein encoded by the MAD2L1BP gene in humans[1][3][8]. It acts as a crucial regulator of the spindle assembly checkpoint (SAC) during cell division, binding to MAD2 (Mitotic Arrest Deficient 2) after it dissociates from CDC20 and facilitating its disassembly via recruitment of the AAA+-ATPase TRIP13[3][8]. This SAC silencing is essential for the transition from metaphase to anaphase and for faithful chromosome segregation[3][4][8]. Genetic studies have shown that biallelic loss-of-function variants in MAD2L1BP cause severe human disorders, including mosaic variegated aneuploidy syndromes, microcephaly, childhood-onset cancers, and female infertility due to oocyte maturation arrest, highlighting the protein's importance for genomic stability and reproductive health[4][8]. The protein does not belong to classical receptor, enzyme, or transporter superfamilies, but is recognized for its essential adapter function in cell cycle regulation and its protein-protein interactions crucial for SAC silencing and DNA repair[3][8]. There are currently no known drugs targeting MAD2L1BP.

Other names

Caught by MAD2 proteinCMT2KIAA0110dJ261G23.1p31cometp31(comet)MAD2L1BPRP1-261G23.6

Not established for any approved or investigational drugs (current interventions relate to gene/protein rescue in functional studies, not pharmaceuticals)[8].