ISCU
ISCU (Iron-sulfur cluster assembly enzyme) is a protein that in humans is encoded by the ISCU gene. This protein is located in the mitochondria, the energy-producing centers of cells, and is involved in the formation of iron-sulfur clusters. These clusters are necessary for the function of many cellular enzymes, which carry out a variety of tasks including the regulation of DNA repair, protein synthesis, and energy production.
Function[edit | edit source]
The ISCU protein is a key component of the iron-sulfur cluster assembly machinery. Iron-sulfur clusters are necessary for the function of many cellular enzymes. The ISCU protein helps to assemble these clusters and then deliver them to the appropriate enzymes within the cell. This process is essential for the normal functioning of cells.
Clinical significance[edit | edit source]
Mutations in the ISCU gene can lead to a condition known as ISCU myopathy. This condition is characterized by muscle weakness and fatigue, as well as a variety of other symptoms. The condition is caused by a deficiency in the ISCU protein, which leads to a decrease in the function of iron-sulfur cluster-dependent enzymes.
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References[edit | edit source]
External links[edit | edit source]
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