MRPS9

MRPS9 is a gene that encodes the mitochondrial ribosomal protein S9 in humans. This protein is a component of the mitochondrial ribosome, which is responsible for protein synthesis within the mitochondria. The MRPS9 gene is located on chromosome 12q24.33 in the human genome.

Function

The MRPS9 gene encodes a protein that is a part of the small subunit of the mitochondrial ribosome. The ribosome is a complex molecular machine found within all living cells, that serves as the site of biological protein synthesis. In mitochondria, ribosomes synthesize proteins that are essential for the oxidative phosphorylation pathway, which is the primary method of ATP production in the cell.

Clinical Significance

Mutations in the MRPS9 gene have been associated with various diseases. For example, a study found that a mutation in this gene was associated with Leigh syndrome, a severe neurological disorder that typically arises in the first year of life. This is characterized by progressive loss of mental and movement abilities, which can result in death within a couple of years, usually due to respiratory failure.

Research

Research is ongoing to understand the role of MRPS9 in disease and health. For instance, some studies are investigating the role of this gene in cancer. It has been suggested that MRPS9 may be a potential therapeutic target for certain types of cancer.

See Also

• Mitochondrial Diseases
• Mitochondrial Genetics
• Leigh Syndrome

References

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