Stomatin

Stomatin is a protein that in humans is encoded by the STOM gene. It is a member of the Stomatin family, which includes proteins that are involved in various cellular processes. Stomatin is primarily found in the erythrocyte (red blood cell) membrane, but it is also present in other tissues.

Function

Stomatin plays a crucial role in maintaining the integrity of the cell membrane. It is involved in the regulation of ion channels, which are responsible for the movement of ions across the cell membrane. This regulation is essential for maintaining the balance of ions within the cell, which is necessary for the cell's normal function.

Stomatin also plays a role in the function of the sensory neurons. It is involved in the regulation of mechanosensation, which is the process by which cells sense mechanical stimuli.

Clinical significance

Mutations in the STOM gene can lead to hereditary stomatocytosis, a rare genetic disorder characterized by abnormal red blood cells. Symptoms of this disorder can include anemia, jaundice, and splenomegaly (enlarged spleen).

Stomatin has also been implicated in the development of certain types of cancer. Some studies have found that high levels of stomatin are associated with a poor prognosis in patients with colorectal cancer and breast cancer.

Research

Research is ongoing to better understand the function of stomatin and its role in disease. This includes studies to investigate the role of stomatin in ion channel regulation and mechanosensation, as well as research to explore the potential of targeting stomatin for the treatment of cancer.

File:Stomatin.png

Stomatin protein structure. Image from Wikimedia Commons.

See also

• Stomatin family
• Ion channel
• Hereditary stomatocytosis
• Mechanosensation

References

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