Solute Carrier Family 30 Member 10

Solute Carrier Family 30 Member 10 (SLC30A10) is a protein that in humans is encoded by the SLC30A10 gene. This protein is a member of the solute carrier family, specifically the zinc transporter family, which is involved in the transport of zinc out of cells. Zinc is an essential trace element, crucial for the function of numerous enzymes and transcription factors. The proper functioning of SLC30A10 is vital for maintaining zinc homeostasis within the body and preventing toxic accumulation of zinc in cells.

Function

SLC30A10 plays a critical role in zinc homeostasis by mediating the efflux of zinc from cells into the extracellular space or into intracellular vesicles. This process is essential for regulating zinc levels within cells and ensuring that zinc is available where it is needed, while also preventing its toxic accumulation. Zinc is a cofactor for over 300 enzymes and is involved in numerous biological processes including DNA synthesis, cell division, and the immune response. Therefore, the regulation of zinc transport by SLC30A10 is crucial for overall cellular function and health.

Genetic and Molecular Biology

The SLC30A10 gene is located on chromosome 1q41 in humans and consists of multiple exons that encode the SLC30A10 protein. Variations or mutations in the SLC30A10 gene can lead to dysregulation of zinc homeostasis and have been associated with several diseases. For example, mutations in SLC30A10 have been linked to a rare autosomal recessive disorder characterized by parkinsonism, dystonia, hypermanganesemia, polycythemia, and chronic liver disease. This highlights the importance of SLC30A10 in not only zinc transport but also in the regulation of manganese levels, another trace element that is toxic in high concentrations.

Clinical Significance

The clinical significance of SLC30A10 is evident in its association with hypermanganesemia with dystonia, polycythemia, and chronic liver disease (HMDPC). This disorder underscores the critical role of SLC30A10 in manganese detoxification in addition to zinc homeostasis. Patients with mutations in the SLC30A10 gene exhibit symptoms such as movement disorders, elevated manganese levels in the blood, increased red blood cell production (polycythemia), and liver disease. Management of this condition involves chelation therapy to reduce manganese levels, highlighting the importance of SLC30A10 in preventing manganese toxicity.

Research Directions

Research on SLC30A10 continues to uncover its broader implications in health and disease. Studies are exploring its role in other neurological disorders, given its association with parkinsonism and dystonia in HMDPC. Additionally, the role of SLC30A10 in zinc and manganese homeostasis suggests it may have implications in other conditions influenced by these metals, such as diabetes, immune disorders, and certain types of cancer. Understanding the precise mechanisms by which SLC30A10 regulates metal ion transport could lead to novel therapeutic strategies for managing diseases related to metal ion dysregulation.

See Also

• Solute carrier family
• Zinc transporter
• Homeostasis
• Trace element
• Parkinsonism
• Dystonia
• Polycythemia
• Liver disease

References

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