RPS6KA4

RPS6KA4

RPS6KA4, also known as Ribosomal Protein S6 Kinase A4, is a protein-coding gene that plays a crucial role in various cellular processes. It is located on the X chromosome and is associated with a rare genetic disorder called Coffin-Lowry syndrome (CLS). This article provides an overview of the RPS6KA4 gene, its functions, and its implications in human health.

Gene Structure

The RPS6KA4 gene is composed of 23 exons and spans approximately 40 kilobases on the X chromosome. It encodes a protein known as Ribosomal Protein S6 Kinase A4, which belongs to the AGC kinase family. This family of kinases is involved in the regulation of cell growth, proliferation, and survival.

Functions

RPS6KA4 is primarily involved in the regulation of protein synthesis and cellular signaling pathways. It phosphorylates various downstream targets, including ribosomal protein S6, which is essential for the translation of mRNA into proteins. By modulating the activity of ribosomal protein S6, RPS6KA4 influences cell growth and proliferation.

Furthermore, RPS6KA4 is known to interact with multiple signaling pathways, including the mitogen-activated protein kinase (MAPK) pathway and the mammalian target of rapamycin (mTOR) pathway. These interactions contribute to the regulation of cell survival, differentiation, and metabolism.

Implications in Human Health

Mutations in the RPS6KA4 gene have been linked to Coffin-Lowry syndrome (CLS), an X-linked genetic disorder characterized by intellectual disability, facial dysmorphism, and skeletal abnormalities. CLS is caused by loss-of-function mutations in the RPS6KA4 gene, leading to reduced or absent protein activity.

The loss of RPS6KA4 function disrupts normal cellular processes, affecting brain development and function. The exact mechanisms by which RPS6KA4 mutations lead to the specific features of CLS are still under investigation. However, it is believed that the dysregulation of protein synthesis and signaling pathways contributes to the cognitive and physical impairments observed in individuals with CLS.

References

1. RPS6KA4 gene. (n.d.). Genetics Home Reference. Retrieved from [[1]].

2. Coffin-Lowry syndrome. (n.d.). Genetics Home Reference. Retrieved from [[2]].

3. Krapels, I. P., et al. (2005). Genotype-phenotype correlations in Coffin-Lowry syndrome. Journal of Medical Genetics, 42(6), 408-413.

See Also

• Coffin-Lowry syndrome
• Genetic Disorders
• Protein Synthesis
• Cell Signaling
• Mitogen-Activated Protein Kinase Pathway
• Mammalian Target of Rapamycin Pathway