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- The EGFR gene provides instructions for making a receptor protein called the epidermal growth factor receptor, which spans the cell ...
- The NOTCH3 gene provides instructions for making a protein with one end (the intracellular end) that remains inside the cell, a middle (transmembrane) section that spans the ...
- The ABCA4 gene provides instructions for making a protein that is found in the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, the ABCA4 protein ...
- The ELOVL4 gene provides instructions for making a protein that is found primarily in the retina, the specialized light-sensitive tissue that lines the back ...
- The ZIC2 gene provides instructions for making a protein that plays an important role in the development of the front part of the brain (forebrain). This protein ...
- The RAPSN gene provides instructions for making a protein called rapsyn that attaches (binds) to the different parts (subunits) of a protein found in the muscle cell membrane called acetylcholine receptor (AChR). This ...
- The UNC13D gene provides instructions for making a protein that is involved in the process of cell destruction (cytolysis) and the regulation of the immune system.The UNC13D protein ...
- The BCHE gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in ...
- The INS gene provides instructions for producing the hormone insulin, which is necessary for the control of glucose levels in the blood. Glucose is a simple sugar and the primary energy ...
- The MATR3 gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix. The nuclear matrix is a network ...
