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RPL5 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RPL5 gene

The RPL5 gene provides instructions for a ribosomal protein that also functions as a tumor suppressor, with mutations linked to Diamond-Blackfan anemia and various cancers.

Normal Function

The RPL5 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 RPL5 gene is among those found in the large subunit.

The specific functions of the RPL5 protein and the other ribosomal proteins within these subunits are unclear. Some ribosomal proteins are involved in the assembly or stability of ribosomes. Others help carry out the ribosome's main function of building new proteins. Studies suggest that some ribosomal proteins may have other functions, such as participating in chemical signaling pathways within the cell, regulating cell division, and controlling the self-destruction of cells (apoptosis).

Research suggests that the protein produced from the RPL5 gene also normally has tumor suppressor function, which means that it helps keep cells from growing and dividing too rapidly or in an uncontrolled way.

Health Conditions Related to Genetic Changes

Diamond-Blackfan anemia

More than 70 RPL5 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 RPL5 gene mutations that cause Diamond-Blackfan anemia are either inherited or occur early in development before birth, and occur in every cell in the body. The mutations 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.

Cancers

Mutations and deletions affecting the RPL5 gene have been identified in cancerous tumors of several types, including breast cancer, a type of brain tumor called glioblastoma, and a skin cancer called melanoma. These genetic changes are somatic, which means that they are not inherited and occur only in the cancer cells. Mutations or deletions in the RPL5 gene that interfere with the RPL5 protein's tumor suppressor function can result in the uncontrolled cell growth and division that leads to cancer.

Other Names for This Gene

  • 60S ribosomal protein L5
  • DBA6
  • L5
  • MGC117339
  • MSTP030
  • PPP1R135
  • RL5_HUMAN
  • uL18

Frequently Asked Questions

Most cases of Diamond-Blackfan anemia (DBA) caused by RPL5 mutations are inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is sufficient to cause the disorder. However, many cases arise from de novo (new) mutations that occur in the egg or sperm cell or in the early embryo, meaning neither parent carries the mutation. If a parent has DBA due to an RPL5 mutation, there is a 50 percent chance with each pregnancy of passing the altered gene to their child. Genetic counseling is recommended for families with a history of the condition to assess recurrence risks and discuss testing options.
The hallmark symptom of DBA is pure red cell aplasia, where the bone marrow fails to produce enough red blood cells, leading to severe anemia, fatigue, and shortness of breath. Unlike other anemias, white blood cell and platelet counts are usually normal. Physical abnormalities are common in about 50 percent of patients and can include short stature, thumb anomalies (such as hypoplasia or absence), and craniofacial features. Diagnosis is typically confirmed through a complete blood count showing low reticulocytes and hemoglobin, followed by genetic testing that identifies specific mutations in the RPL5 gene.
While Diamond-Blackfan anemia can be caused by mutations in several different genes, RPL5 mutations are frequently associated with specific congenital anomalies. Common physical findings include thumb abnormalities (such as a missing or underdeveloped thumb), short stature, and craniofacial features like a broad nasal bridge or low-set ears. However, the presence or absence of these physical traits does not definitively confirm the genetic cause; genetic testing is required to identify the specific RPL5 mutation. Some patients may have no obvious physical abnormalities, making genetic diagnosis essential for accurate classification.
Yes, individuals with Diamond-Blackfan anemia caused by RPL5 mutations have a significantly increased risk of developing certain cancers, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This is because the RPL5 protein normally acts as a tumor suppressor, helping to regulate cell division and prevent uncontrolled growth. When the gene is mutated, this protective function is compromised. Patients with DBA require regular monitoring and blood tests to detect early signs of blood disorders or malignancies.
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.

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