STOM
Description
The STOM (stomatin) is a protein-coding gene located on chromosome 9.
Stomatin, also known as human erythrocyte integral membrane protein band 7, is a protein encoded by the STOM gene. It is a 31 kDa integral membrane protein named after the rare human hemolytic anemia hereditary stomatocytosis. Stomatin belongs to a highly conserved family of integral membrane proteins and is found in the cell membrane of red blood cells and other cell types. Its function is thought to involve regulating ion channels and transporters. Loss of Stomatin localization is associated with hereditary stomatocytosis, a type of hemolytic anemia. Despite its widespread presence and constitutive expression, suggesting a crucial role in cell biology, the exact function of Stomatin remains unclear. Its abundance in membrane-protruding folds and extensions suggests a potential structural role in the formation of these structures and/or their anchorage to the actin cytoskeleton.
Stomatin plays a role in regulating ion channel activity and transmembrane ion transport, specifically affecting the activity of ASIC2 and ASIC3 channels.
STOM is also known as BND7, EPB7, EPB72.
