MKKS (MKKS centrosomal shuttling protein) is a molecular chaperone that facilitates protein folding through ATP hydrolysis and plays a critical role in ciliogenesis 1. It functions as a component of the BBSome complex, which regulates vesicle transport to cilia 1. MKKS localizes dynamically between the centrosome and cytosol in healthy cells 2. Disease-causing mutations result in abnormal protein conformation, leading to rapid degradation via CHIP-mediated ubiquitination and proteasomal pathways, with mutant proteins often failing centrosomal localization 2. MKKS mutations cause two overlapping ciliopathies: McKusick-Kaufman syndrome (characterized by hydrometrocolpos, polydactyly, and cardiac defects) and Bardet-Biedl syndrome (featuring retinitis pigmentosa, polydactyly, obesity, renal anomalies, and developmental delays), both inherited autosomal recessively 3. MKKS mutations account for 4-11% of unselected Bardet-Biedl syndrome cases but 24% of cases with specific linkage patterns 3. Additionally, MKKS genetic variation associates with obesity and metabolic syndrome in population studies 4. Recent evidence demonstrates that specific MKKS mutations can functionally interact with other ciliopathy proteins like CEP290, suggesting complex protein interactions underlie disease pathogenesis 5.