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RPS24 gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RPS24 gene

The RPS24 gene provides instructions for creating a component of ribosomes, the cellular structures responsible for building proteins.

Normal Function

The RPS24 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 is made up of two parts (subunits) called the large and small subunits. The protein produced from the RPS24 gene is among those found in the small subunit. While the specific functions of the RPS24 protein are unclear, ribosomal proteins generally contribute to the following:

  • Assembly or stability of ribosomes.
  • Building new proteins.
  • Participating in chemical signaling pathways within the cell.
  • Regulating cell division.
  • Controlling the self-destruction of cells (apoptosis).

Health Conditions Related to Genetic Changes

Diamond-Blackfan anemia

At least 10 RPS24 gene mutations have been identified in individuals with Diamond-Blackfan anemia. This disorder primarily affects the bone marrow, which produces new blood cells. People with this condition often also have physical abnormalities affecting various parts of the body.

The RPS24 gene mutations that cause Diamond-Blackfan anemia are believed to cause problems with ribosomal function. Studies indicate that a shortage of functioning ribosomes may increase apoptosis of blood-forming cells in the bone marrow, resulting in a low number of red blood cells (anemia). Abnormal regulation of cell division or inappropriate triggering of apoptosis may contribute to the other health problems and unusual physical features that affect some people with Diamond-Blackfan anemia.

Other Names for This Gene

  • 40S ribosomal protein S24
  • DBA3
  • eS24
  • RS24_HUMAN
  • S24

Frequently Asked Questions

Diagnosis typically involves blood tests to check for anemia and bone marrow examination to look for specific abnormalities in blood-forming cells. Genetic testing, specifically sequencing of the RPS24 gene, is used to identify the characteristic mutations and confirm the diagnosis.
Treatment for Diamond-Blackfan anemia often involves corticosteroids to stimulate red blood cell production. If corticosteroids are not effective, regular blood transfusions may be necessary. In some cases, a stem cell transplant might be considered, especially for severe or transfusion-dependent patients. Management also includes addressing any physical abnormalities.
Diamond-Blackfan anemia (DBA) linked to RPS24 mutations primarily causes a severe shortage of red blood cells, leading to symptoms of anemia like fatigue, paleness, and weakness. Many individuals also experience a range of physical abnormalities affecting different body parts, which can vary widely among patients.
Diamond-Blackfan anemia caused by RPS24 gene mutations is usually inherited in an autosomal dominant pattern. This means only one copy of the altered gene in each cell is sufficient to cause the disorder. Often, the mutation occurs spontaneously in the affected individual and is not inherited from a parent.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.