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RPS19 gene

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

RPS19 gene

The RPS19 gene encodes a ribosomal protein, and mutations in this gene are a frequent cause of Diamond-Blackfan anemia.

Normal Function

The RPS19 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 RPS19 gene is among those found in the small subunit.

The specific functions of the RPS19 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

More than 170 RPS19 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 RPS19 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 S19
  • DBA
  • eS19
  • RS19_HUMAN
  • S19

Frequently Asked Questions

RPS19 gene mutations are a very frequent cause of Diamond-Blackfan anemia, identified in more than 170 individuals. It is one of the most commonly mutated genes associated with this disorder, making it a primary focus for genetic testing.
Beyond severe anemia, individuals with RPS19-related Diamond-Blackfan anemia can experience various physical abnormalities affecting different body parts. Long-term issues may include growth problems, skeletal abnormalities, and an increased risk of certain cancers, though the specific manifestations vary.
Mutations in the RPS19 gene disrupt the normal function of ribosomes, which are crucial for protein production. This ribosomal dysfunction is believed to cause an increase in the programmed cell death (apoptosis) of red blood cell precursors in the bone marrow, leading to the characteristic low red blood cell count and anemia.
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.