Mkks, also associated with McKusick-Kaufman syndrome (MKKS) and Bardet-Biedl syndrome (BBS), encodes a centrosome-shuttling protein [1]. Wild-type MKKS shuttles between the centrosome and cytosol, and it is likely involved in pathways related to normal development as mutations in the gene lead to developmental anomalies [1].

Disease-causing mutants of MKKS are rapidly degraded via the ubiquitin-proteasome pathway in a CHIP-dependent manner [1]. Mutants often fail to localize to the centrosome, and inhibiting proteasome functions causes them to form insoluble structures at the centrosome [1]. Mkks-null mice exhibit a phenotype resembling Bardet-Biedl syndrome, including retinal degeneration, spermatozoa flagella formation failure, elevated blood pressure, obesity, olfactory and social dominance deficits [2].

In conclusion, Mkks is crucial for normal cellular localization and function through its role as a centrosome-shuttling protein. The study of Mkks-null mouse models has revealed its significance in the pathophysiology of Bardet-Biedl syndrome, helping to understand the disease mechanisms related to this gene [1,2].