Human MKKS (McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin) ELISA KIT (HUFI05067)

The MKKS gene encodes a putative chaperonin protein of approximately 62 kDa that has been linked to McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS6). MKS presents with postaxial polydactyly, congenital heart defects, and hydrometrocolpos, while BBS is a ciliopathy featuring retinal degeneration, obesity, renal anomalies, polydactyly, and cognitive impairment. Quantifying circulating MKKS protein in clinical research specimens supports translational ciliopathy studies, chaperonin biology investigations, and genotype-phenotype correlation work. The Assay Genie kit is supplied as a complete microplate package with pre-coated wells, detection reagents, calibrators, and buffers required for research use only assays of this disease-associated chaperonin.