Stomatin

Stomatin is a protein that is encoded by the STOM gene in humans. It is a member of the stomatin family of proteins, which are involved in the regulation of ion channels and transporters. Stomatin is predominantly found in erythrocytes (red blood cells) and is associated with the cell membrane.

Function

Stomatin plays a crucial role in the regulation of ion channels and transporters, particularly in red blood cells. It is involved in the maintenance of cell membrane integrity and cellular homeostasis. Stomatin is known to interact with other proteins, such as band 3 protein and glucose transporter 1, influencing their function and stability.

Clinical significance

Mutations in the STOM gene can lead to various hematological disorders, including hereditary stomatocytosis, a condition characterized by the presence of stomatocytes in the blood. Stomatocytes are red blood cells with a mouth-shaped (stoma) area of central pallor. This condition can result in hemolytic anemia, where red blood cells are destroyed faster than they can be produced.

Interactions

Stomatin has been shown to interact with several other proteins, including:

• Band 3 protein
• Glucose transporter 1
• Acetylcholinesterase

These interactions are important for the regulation of ion transport and the structural organization of the cell membrane.

See also

• Stomatin family
• Ion channel
• Red blood cell
• Hereditary stomatocytosis

References

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