The PLP1 gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of that protein called DM20. Proteolipid protein 1 is found primarily in the brain and spinal cord (the central nervous system). DM20 is produced READ MORE

The PML gene provides instructions for a protein that acts as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. The PML protein is found in distinct structures in the nucleus of a cell READ MORE

The PMM2 gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). This enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Oligosaccharides are made READ MORE

The PMP22 gene provides instructions for making a protein called peripheral myelin protein 22 (PMP22). This protein is found in the peripheral nervous system, which connects the brain and spinal cord to muscles and to sensory cells that detect sensat READ MORE

The PMS2 gene provides instructions for making a protein that plays an essential role in repairing DNA. This protein helps correct errors that are made when DNA is copied in preparation for cell division, a process called DNA replication. The PMS2 pr READ MORE

Researchers have not determined the role of the PNKD gene (frequently called the MR1 gene) in the human body. This gene is highly active (expressed) in the brain, which suggests that it plays an important role in normal brain function. The protein pr READ MORE

The PNKP gene provides instructions for making the polynucleotide kinase-phosphatase (PNKP) enzyme. This enzyme is critical for repairing broken strands of DNA molecules. It can help fix damage that affects one DNA strand (single-strand breaks) or bo READ MORE

The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in certain white blood cells called lymphocytes. These cells protect the body against potentia READ MORE

The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides, which are the main source of stored energy in cells. Triglycerides are the READ MORE

The PNPLA3 gene provides instructions for making an enzyme that is found in fat cells (adipocytes) and liver cells (hepatocytes). The liver is part of the digestive system, and it helps break down food, store energy, and remove waste products. The PN READ MORE

The PNPLA6 gene provides instructions for making a protein called neuropathy target esterase (NTE). The NTE protein is involved in the breakdown of certain fats (lipids). Specifically, NTE breaks down a lipid called lysophosphatidylcholine, which is READ MORE

The PNPO gene provides instructions for producing an enzyme called pyridox(am)ine 5'-phosphate oxidase. This enzyme is involved in the breakdown (metabolism) of vitamin B6. Specifically, it chemically modifies two forms of vitamin B6 obtained from fo READ MORE