40S ribosomal protein S24

40S ribosomal protein S24 is a protein that in humans is encoded by the RPS24 gene. This protein is a component of the 40S subunit of the ribosome, which is involved in the translation of messenger RNA (mRNA) into protein. The 40S ribosomal protein S24 is essential for the initiation of translation and plays a critical role in the early stages of protein synthesis.

Function

The 40S ribosomal protein S24, as part of the 40S subunit, participates in the formation of the initiation complex in protein synthesis. This complex is responsible for the accurate recognition and binding of the mRNA template to the ribosome. The role of RPS24, along with other ribosomal proteins, is crucial for the maintenance of the structural integrity of the ribosome and for its proper function during the translation process.

Gene

The RPS24 gene is located on the short (p) arm of chromosome 10 at position 23.1, spanning approximately 10 kilobases. This gene contains several exons and introns, and its expression is tightly regulated to meet the cellular demands for protein synthesis.

Clinical Significance

Mutations in the RPS24 gene have been associated with Diamond-Blackfan anemia (DBA), a rare congenital disorder characterized by anemia, short stature, and a variety of other developmental abnormalities. DBA results from defects in ribosome synthesis, leading to insufficient production of ribosomes and, consequently, impaired protein synthesis. Patients with mutations in the RPS24 gene exhibit a specific subset of the symptoms associated with DBA, highlighting the importance of this protein in normal cellular function and development.

Evolutionary Conservation

The 40S ribosomal protein S24 is highly conserved across different species, indicating its fundamental role in the ribosome's function. Comparative studies of the RPS24 protein in organisms ranging from yeast to humans have revealed similarities in its amino acid sequence and structure, underscoring the evolutionary importance of efficient and accurate protein synthesis mechanisms.

See Also

• Ribosome
• Protein synthesis
• Diamond-Blackfan anemia
• Ribosomal proteins