Mitotic spindle assembly checkpoint protein MAD2A, HsMAD2, Mitotic arrest deficient 2-like protein 1, MAD2-like protein 1, MAD2L1, MAD2.
MAD2L1 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 225 amino acids (1-205 a.a.) and having a molecular mass of 25.7kDa.
MAD2L1 is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Mitotic spindle assembly checkpoint protein MAD2A, HsMAD2, Mitotic arrest deficient 2-like protein 1, MAD2-like protein 1, MAD2L1, MAD2.
MGSSHHHHHH SSGLVPRGSH MALQLSREQG ITLRGSAEIV AEFFSFGINS ILYQRGIYPS ETFTRVQKYG LTLLVTTDLE LIKYLNNVVE QLKDWLYKCS VQKLVVVISN IESGEVLERW QFDIECDKTA KDDSAPREKS QKAIQDEIRS VIRQITATVT FLPLLEVSCS FDLLIYTDKD LVVPEKWEES GPQFITNSEE VRLRSFTTTI HKVNSMVAYK IPVND.
The human orthologues of MAD2, namely MAD2L1 and MAD2L2, were first cloned in a search for human complementary DNAs (cDNAs) that could rescue the microtubule poison-sensitivity of a yeast strain lacking a kinetochore binding protein . This discovery highlighted the importance of MAD2L1 in the spindle assembly checkpoint and its evolutionary conservation across species.
MAD2L1 functions as a component of the spindle-assembly checkpoint by forming a heterotetrameric complex with MAD1L1 at unattached kinetochores during prometaphase. This complex recruits open conformation molecules of MAD2L1 (O-MAD2) and promotes their conversion to the closed conformation (C-MAD2). The C-MAD2 then sequesters CDC20, inhibiting the activity of the anaphase-promoting complex (APC/C) until all chromosomes are properly aligned .
Mutations and dysregulation of MAD2L1 have been associated with various diseases, including developmental and epileptic encephalopathy 52 and gastric cancer . Additionally, genetic variants in MAD2L1 have been linked to an increased risk of lung cancer, as they can impair spindle checkpoint function, leading to chromosomal instability .
Research on MAD2L1 continues to be of great interest due to its critical role in maintaining genomic stability. Studies have focused on understanding the functional relevance of missense variations in MAD2L1 and their impact on cancer susceptibility . The recombinant form of MAD2L1 is used in various experimental setups to study its function and interactions with other proteins involved in the mitotic checkpoint.