RPS10 gene

The RPS10 gene provides instructions for a protein component of the ribosome, the cellular machinery responsible for building proteins.

Normal Function

The RPS10 gene provides instructions for making one of approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the cell's genetic instructions to create proteins.

Each ribosome consists of a large and a small subunit. The protein produced from the RPS10 gene is found in the small subunit. While the specific functions of individual ribosomal proteins are not fully understood, they are involved in:

• Assembly or stability of ribosomes.
• Building new proteins.
• Potential roles in chemical signaling pathways, regulating cell division, and controlling apoptosis (programmed cell death).

Health Conditions Related to Genetic Changes

Diamond-Blackfan anemia

At least five RPS10 gene mutations have been identified in individuals with Diamond-Blackfan anemia, a disorder that primarily affects the bone marrow's ability to produce new blood cells. People with this condition often have physical abnormalities affecting various parts of the body.

Mutations in the RPS10 gene are believed to result in an abnormally short, nonfunctional RPS10 protein. This may impair the assembly of ribosomes, leading to a shortage of functioning ribosomes. This shortage is thought to:

• Increase apoptosis of blood-forming cells in the bone marrow, resulting in a low number of red blood cells (anemia).
• Contribute to other health problems and physical features through abnormal regulation of cell division or inappropriate triggering of apoptosis.

Other Names for This Gene

• 40S ribosomal protein S10
• DBA9
• MGC88819
• RS10_HUMAN
• S10