RPS6KA3

RPS6KA3 (Ribosomal Protein S6 Kinase A3), also known as RSK2 (Ribosomal S6 Kinase 2), is a gene that encodes a member of the RSK (p90 ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The RPS6KA3 gene is located on the X chromosome and mutations in this gene have been associated with Coffin-Lowry syndrome.

Function

The RPS6KA3 gene provides instructions for making a protein that is involved in signaling, which helps control the activity of certain proteins and the production of particular types of cells. The RPS6KA3 protein is part of a signaling pathway known as the MAPK/ERK pathway, which controls several important cell functions. Specifically, the RPS6KA3 protein regulates cell growth and development, cell division, cell differentiation, and the self-destruction of cells (apoptosis).

Clinical significance

Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome, a condition that affects many parts of the body. The signs and symptoms of this disorder are typically more severe in males than in females. Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development. In contrast, females with a mutation in the RPS6KA3 gene have milder features of the condition, including less severe intellectual disability.

See also

• Coffin-Lowry syndrome
• MAPK/ERK pathway
• Ribosomal S6 kinase