RPS6KA3

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).

Proteins in the RSK family, including RPS6KA3, are also included in a larger family called ribosomal proteins (RPS). These proteins are components of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. RSK proteins are among the ribosomal proteins that also have functions unrelated to protein production.

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.

Coffin-Lowry syndrome - caused by mutations in the RPS6KA3 gene

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 - caused by mutations in the RPS6KA3 gene

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 mental retardation (XLMR). Researchers believe that RPS6KA3 mutations are a rare cause of XLMR because only a few affected families have mutations in this gene.