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- ... TIMM8A gene provides instructions for making a protein that is found inside mitochondria, which are structures within cells that convert the energy from food into a form ...
- ... a protein with one end (the intracellular end) that remains inside the cell, a middle (transmembrane) section that spans the cell membrane, and another end (the ...
- ... IFT140 gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and ...
- ... 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 ...
- ... provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials. Sialin moves a molecule ...
- ... BCS1L gene provides instructions for making a protein that functions in cell structures called mitochondria, which convert the energy from food into a form that cells can use. The BCS1L protein is critical ...
- ... KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium ( ...
- ... MAP3K1 gene provides instructions for making a protein that helps regulate signaling pathways that control various processes in the body, including the ...
- ... ECM1 gene provides instructions for making a protein that is found in most tissues within the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides ...
- ... ITPR1 gene provides instructions for making a protein that is part of a channel that controls the flow of positively charged calcium atoms ( ... identified in people with Gillespie syndrome, a disorder that involves eye abnormalities, weak muscle tone from birth ( ...