MAD1L1

MAD1L1

A gene on chromosome 7p22 that encodes a component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate, and which may recruit MAD2L1 to unattached kinetochores. MAD1L2 binds to the TERT promoter and represses telomerase expression, possibly by interfering with MYC binding.
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3-q27 Change % of patients Candidate genes Loss 50-78 RB1 Loss 50-67 CDKN1B, ETV6 Loss 50-66 CDKN2A, CDKN2B, MTAP Loss 50-55 NOTCH, TRAF2, CARD9 Loss 21-44 SMAD5, MSH3, MCC, APC Loss 33-36 CYP1A1 Loss 29 PTPN23 Loss 22-29 CDKN2D, PRKCSH Loss 22 TP53 Loss 21 MAD1L1 Loss 11-21 PARK2 Table 3: Summary of the most frequent genomic alterations in BPDCN.