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RPS17 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RPS17 gene

The RPS17 gene provides instructions for a ribosomal protein, and mutations in this gene are associated with Diamond-Blackfan anemia.

Normal Function

The RPS17 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 RPS17 gene is among those found in the small subunit.

The specific functions of the RPS17 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 18 RPS17 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 RPS17 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 S17
  • DBA4
  • MGC72007
  • RPS17L1
  • RPS17L2
  • RS17_HUMAN
  • S17

Frequently Asked Questions

Children with Diamond-Blackfan anemia often show signs of severe anemia, such as extreme paleness, fatigue, weakness, and poor feeding. They may also have specific physical abnormalities, which can vary widely but might include issues with the head, face, hands, or heart.
Diamond-Blackfan anemia caused by RPS17 gene mutations is typically inherited in an autosomal dominant pattern. This means only one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, the mutation occurs spontaneously in the affected individual and is not inherited from a parent.
mutated RPS17 gene leads to problems with the function of ribosomes, which are essential cellular structures for making proteins. This ribosomal dysfunction is thought to increase the self-destruction (apoptosis) of blood-forming cells in the bone marrow, resulting in a severe shortage of red blood cells and the characteristic 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.

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