Promin
Promin is a type of protein that is found in the human body. It is a member of the actin binding proteins, which are responsible for the regulation of the cytoskeleton structure. The cytoskeleton is a complex network of interlinking filaments and tubules that extend throughout the cytoplasm of a cell. It is involved in a variety of functions, including maintaining cell shape, enabling cellular movement, and facilitating cellular division.
Promin is particularly important in the formation of microvilli, which are small, finger-like projections that extend from the surface of many types of cells. Microvilli increase the surface area of cells, allowing for increased absorption and secretion of substances. They are particularly abundant in the intestine, where they aid in the absorption of nutrients.
Promin is encoded by the PROM1 gene, which is located on the long (q) arm of chromosome 4 at position 11.2. Mutations in the PROM1 gene can lead to a variety of health conditions, including Stargardt disease, cone-rod dystrophy, and macular degeneration. These conditions are all characterized by progressive vision loss due to the degeneration of cells in the retina.
Research is ongoing to better understand the role of promin in the body and how mutations in the PROM1 gene lead to disease. This research may lead to new treatments for conditions caused by PROM1 gene mutations.
See also[edit | edit source]
References[edit | edit source]
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