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  • Molecular assay reagents intended to identify mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene, located at chromosome 6p21.1-p12, which encodes for the protein fibrocystin (also known as polyductin) that may act as a receptor, interacting with molecules outside the cell and receiving signals that help the cell respond to its environment. Fibrocystin may be involved in connecting cells together (adhesion), keeping cells apart (repulsion), and promoting the growth and division of cells (proliferation). Mutations at this locus have been identified in patients with early-onset polycystic kidney and hepatic disease type 1.
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