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Genes

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PKD1

The PKD1 gene provides instructions for making a protein called polycystin-1. This protein is most active in kidney cells before birth; much less of the protein is made in normal adult kidneys. Although its exact function is not well understood, poly
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PKD2

The PKD2 gene provides instructions for making a protein called polycystin-2. This protein is found in the kidneys before birth and in many adult tissues. Although its exact function is not well understood, polycystin-2 can be regulated by a larger,
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PKHD1

The PKHD1 gene provides instructions for making a protein called fibrocystin (sometimes known as polyductin). This protein is present in fetal and adult kidney cells, and is also present at low levels in the liver and pancreas. Fibrocystin spans the
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PKLR

The PKLR gene is active (expressed) in the liver and in red blood cells, where it provides instructions for producing an enzyme called pyruvate kinase. This enzyme is involved in a critical energy-producing process known as glycolysis. During glycoly
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PKP2

The PKP2 gene provides instructions for making a protein called plakophilin 2. This protein is found primarily in cells of the myocardium, which is the muscular wall of the heart. Within these cells, plakophilin 2 is one of several proteins that make
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PLA2G6

The PLA2G6 gene provides instructions for making a type of enzyme called an A2 phospholipase. This type of enzyme is involved in breaking down (metabolizing) fats called phospholipids. Phospholipid metabolism is important for many body processes, inc
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PLAGL1

The PLAGL1 gene provides instructions for making a member of a protein family called zinc finger proteins. Zinc finger proteins are involved in many cellular functions. These proteins each contain one or more short regions called zinc finger domains,
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PLCB4

The PLCB4 gene provides instructions for making one form (the beta 4 isoform) of a protein called phospholipase C. This protein is involved in a signaling pathway known as the phosphoinositide cycle, which helps transmit information from the outside
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PLCG2

The PLCG2 gene provides instructions for making an enzyme called phospholipase C gamma 2 (PLCγ2). This enzyme performs a chemical reaction that enables molecules to relay signals from outside the cell to the inside. These signals direct cellular func
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PLEC

The PLEC gene provides instructions for making a protein called plectin. This protein is produced in many different tissues in the body, including skin and muscle. Within cells, plectin interacts with several molecules that make up the cell's structu
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PLG

The PLG gene provides instructions for making a protein called plasminogen, which is produced in the liver. Enzymes called plasminogen activators convert plasminogen into the protein plasmin, which breaks down another protein called fibrin. Fibrin is
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PLOD1

The PLOD1 gene provides instructions for making an enzyme called lysyl hydroxylase 1. This enzyme modifies an amino acid called lysine, which is one of the building blocks used to make proteins. Specifically, lysyl hydroxylase 1 converts lysine to a
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