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structure-based interaction analyses revealed an unprecedented mechanism involving CAMP's WK motif. Surprisingly, in one of the crystal forms, the MAD2L2 (显示 MAD2L2 蛋白)-CAMP complex formed a dimeric structure in which the C-terminal region of MAD2L2 (显示 MAD2L2 蛋白) was swapped and adopted an immature structure
These data suggest a pathogenic mechanism of the CHAMP1-associated intellectual disability syndrome mediated by direct interacting partners of CHAMP1, several of which are involved in chromo/kinetochore-related disorders.
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
The study reports a novel protein involved in kinetochore-microtubule attachment, chromosome alignment-maintaining phosphoprotein (CAMP) (C13orf8, ZNF828).
Required for proper alignment of chromosomes at metaphase and their accurate segregation during mitosis. Involved in the maintenance of spindle microtubules attachment to the kinetochore during sister chromatid biorientation. May recruit CENPE and CENPF to the kinetochore (By similarity).
zinc finger protein 828
, chromosome alignment-maintaining phosphoprotein 1