IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PKHD1
Definition : 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.
Entry Terms : "Potter's Type 1 Cystic Kidney Disease Gene Mutation Reagents" , "Polycystic Kidney and Hepatic Disease Type 1 (PKHD1) Gene Mutation Reagents" , "Polycystic Kidney Disease, Infantile Gene Mutation Reagents" , "Autosomal Recessive Polycystic Kidney Disease (ARPKD) Gene Mutation Reagents" , "PKHD1 Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Polycystic Kidney" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PKHD1"
UMDC code : 24668