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RPS6KA3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RPS6KA3 gene

The RPS6KA3 gene provides instructions for a protein involved in cell signaling and brain function, with mutations linked to Coffin-Lowry syndrome and X-linked intellectual disability.

Normal Function

The RPS6KA3 gene provides instructions for making a protein that is part of a family called ribosomal S6 kinases (RSKs). These proteins help regulate the activity of certain genes and are involved in signaling within cells. RSK proteins are thought to play a role in several important cellular processes including cell growth and division (proliferation), cell specialization (differentiation), and the self-destruction of cells (apoptosis).

The protein made by the RPS6KA3 gene appears to play an important role in the brain. The protein is involved in cell signaling pathways that are required for learning, the formation of long-term memories, and the survival of nerve cells.

Health Conditions Related to Genetic Changes

Coffin-Lowry syndrome

More than 125 mutations in the RPS6KA3 gene have been identified in people with Coffin-Lowry syndrome, a condition associated with intellectual disability and skeletal abnormalities. All of these mutations severely reduce or eliminate the activity of the RPS6KA3 protein. Some mutations insert or delete genetic material in the gene or change how the gene's instructions are used to build the protein. Other mutations change single protein building blocks (amino acids) in the RPS6KA3 protein.

Researchers do not fully understand how mutations in the RPS6KA3 gene lead to the signs and symptoms of Coffin-Lowry syndrome. A functional RPS6KA3 protein appears to be important for learning and memory, but its role in the skeleton is unknown.

Other disorders

RPS6KA3 mutations have been identified in some people who have intellectual disability, but do not have most of the other characteristic features of Coffin-Lowry syndrome. Because the RPS6KA3 gene is on the X chromosome, this condition is known as X-linked intellectual disability. Researchers believe that RPS6KA3 mutations are a rare cause of intellectual disability because only a few affected families have mutations in this gene.

Other Names for This Gene

  • HU-2
  • HU-3
  • Insulin-stimulated protein kinase 1
  • ISPK-1
  • KS6A3_HUMAN
  • MAP kinase-activated protein kinase 1b
  • MAPKAPK1B
  • MRX19
  • p90(rsk)
  • ribosomal protein S6 kinase, 90kDa, polypeptide 3
  • Ribosomal S6 kinase 2
  • RSK-2
  • RSK2

Frequently Asked Questions

The RPS6KA3 protein is crucial for cell signaling pathways involved in learning, forming long-term memories, and the survival of nerve cells in the brain. When mutations reduce or eliminate its activity, these vital processes are disrupted, leading to the intellectual disability and cognitive challenges seen in Coffin-Lowry syndrome.
Yes, in addition to Coffin-Lowry syndrome, mutations in the RPS6KA3 gene have also been identified in some individuals who have intellectual disability but do not present with the full spectrum of Coffin-Lowry syndrome features. These cases are often referred to as X-linked intellectual disability.
Coffin-Lowry syndrome is primarily characterized by intellectual disability and distinctive skeletal abnormalities. Other features can include developmental delays, short stature, and specific facial features. The severity and combination of symptoms can vary among affected individuals.
Coffin-Lowry syndrome is an X-linked dominant disorder. Since the RPS6KA3 gene is on the X chromosome, males are typically more severely affected than females because they have only one X chromosome. Females, with two X chromosomes, may have milder symptoms or be carriers.
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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