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RPL11 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RPL11 gene

The RPL11 gene provides instructions for making a ribosomal protein essential for ribosome function, and mutations in this gene are associated with Diamond-Blackfan anemia.

Normal Function

The RPL11 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 RPL11 gene is among those found in the large subunit.

The specific functions of the RPL11 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).

Health Conditions Related to Genetic Changes

Diamond-Blackfan anemia

At least 44 RPL11 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 RPL11 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

  • 60S ribosomal protein L11
  • cell growth-inhibiting protein 34
  • CLL-associated antigen KW-12
  • DBA7
  • GIG34
  • L11
  • RL11_HUMAN
  • uL5

Frequently Asked Questions

Yes, RPL11 gene mutations causing Diamond-Blackfan anemia can be inherited. While some cases occur spontaneously (de novo), many are inherited in an autosomal dominant pattern. This means only one copy of the altered gene is needed to cause the condition. If a parent has the mutation, there is a 50% chance with each pregnancy that their child will inherit the mutation and develop DBA. Genetic counseling is recommended for affected families.
The primary treatments for Diamond-Blackfan anemia include corticosteroids, which can stimulate red blood cell production in some patients. For those who don't respond to steroids or become steroid-dependent, regular blood transfusions are necessary to manage anemia. In severe cases, or for patients with specific genetic profiles, a hematopoietic stem cell transplant (bone marrow transplant) may be considered as a curative option.
Children with Diamond-Blackfan anemia (DBA) due to RPL11 mutations often present with symptoms related to severe anemia, such as pallor (pale skin), fatigue, weakness, and irritability. They may also have a rapid heart rate. Additionally, about half of individuals with DBA have physical abnormalities, which can include craniofacial differences, thumb malformations, heart defects, or kidney problems.
Diagnosis of Diamond-Blackfan anemia often begins with blood tests showing macrocytic anemia (large red blood cells) and a very low reticulocyte count (immature red blood cells). A bone marrow biopsy is usually performed to confirm the diagnosis, showing a lack of red blood cell precursors. Genetic testing for mutations in genes like RPL11 is then crucial to identify the specific genetic cause and confirm the diagnosis.
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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