RPL13A

RPL13A (Ribosomal Protein L13a) is a protein that in humans is encoded by the RPL13A gene. This gene is a member of the ribosomal protein gene family, which encodes the proteins that make up the ribosomes, the cellular structures responsible for protein synthesis. Ribosomal proteins play a critical role in the process of translation, where the genetic code from mRNA is translated into a specific protein.

Function

RPL13A is involved in the assembly and function of the 60S subunit of the ribosome. It is essential for the proper functioning of the ribosome, which is crucial for protein synthesis within the cell. Beyond its role in protein synthesis, RPL13A has been implicated in various cellular processes, including response to cellular stress and modulation of the inflammatory response. This suggests that RPL13A may have functions outside of the ribosome, a phenomenon known as ribosomal protein "moonlighting."

Clinical Significance

Alterations in the expression of the RPL13A gene have been associated with several human diseases. For example, dysregulation of RPL13A expression has been observed in certain types of cancer, suggesting a potential role in tumorigenesis. Additionally, mutations in the RPL13A gene have been linked to Diamond-Blackfan anemia, a rare congenital disorder characterized by failure of the bone marrow to produce sufficient red blood cells.

Genetic Information

The RPL13A gene is located on chromosome 15q25.1 in humans. It consists of multiple exons and encodes a protein that is a component of the 60S ribosomal subunit. The gene is highly conserved across different species, indicating its fundamental role in cellular biology.

Research

Research on RPL13A continues to uncover its roles beyond protein synthesis. Studies have explored its involvement in the regulation of gene expression, particularly under stress conditions, and its potential as a target for therapeutic intervention in diseases where its expression is dysregulated.