M-phase-specific PLK1-interacting protein (MPLKIP)

The M-phase-specific PLK1-interacting protein (MPLKIP) is a nuclear protein encoded by the MPLKIP gene, previously known as C7orf11 or TTDN1. This protein localizes to the centrosome during mitosis and to the midbody during cytokinesis, where it is phosphorylated by cyclin-dependent kinase 1 and interacts with polo-like kinase 1 (PLK1)[1][3][4][5][7]. MPLKIP is implicated in the regulation of mitosis and cytokinesis, and its loss disrupts the integrity of the mitotic spindle and cell division. Beyond cell cycle functions, MPLKIP interacts with core splicing factors and with the RNA lariat debranching enzyme DBR1, stabilizing DBR1 and promoting efficient mRNA splicing[2]. Mutations in MPLKIP cause the autosomal recessive disorder non-photosensitive trichothiodystrophy (TTD), characterized by brittle hair, developmental issues, and multisystem involvement, without sensitivity to UV light[1][3][4][5]. There is currently no evidence that MPLKIP is a therapeutic target, nor are there known drugs that modulate its activity. Its primary clinical relevance is as a causative gene in non-photosensitive TTD, rather than as a pharmacologically actionable protein.

Other names

ABHSC7orf11chromosome 7 open reading frame 11ORF20TTDN1TTD non-photosensitive 1 proteinTTD4Russell-Silver syndrome region