Sorting nexin 10

Sorting nexin 10 (SNX10) is a protein that in humans is encoded by the SNX10 gene. SNX10 is part of the sorting nexin family, a diverse group of proteins which are involved in protein trafficking and cellular signaling.

Function

SNX10 plays a crucial role in the endosomal system, which is responsible for sorting and recycling proteins within the cell. It is involved in the formation of endosomes and their subsequent maturation, movement, and function. SNX10 has also been implicated in the regulation of osteoclast differentiation and function, which is essential for bone resorption.

Clinical significance

Mutations in the SNX10 gene have been associated with autosomal recessive osteopetrosis, a rare bone disorder characterized by increased bone density due to a defect in bone resorption. Patients with this condition often suffer from recurrent fractures, anemia, and increased susceptibility to infections.

Structure

The SNX10 protein contains a Phox homology (PX) domain, a common feature of the sorting nexin family. This domain allows SNX10 to bind to phosphatidylinositol 3-phosphate (PI3P), a lipid found in the membranes of early endosomes.

Research

Research into SNX10 has increased our understanding of the endosomal system and its role in human disease. Further studies are needed to fully elucidate the function of SNX10 and its potential as a therapeutic target in osteopetrosis and other diseases.

See also

• Sorting nexin
• Osteopetrosis
• Endosome
• Protein trafficking

References

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