40S ribosomal protein S17

Ideogram human chromosome 15

40S Ribosomal Protein S17

40S Ribosomal Protein S17 is a protein that in humans is encoded by the RPS17 gene. It is a component of the 40S subunit of the ribosome, which is essential for protein synthesis in all living organisms. The RPS17 gene is located on chromosome 15 in humans.

Structure

40S Ribosomal Protein S17 is a small protein consisting of 135 amino acids. It plays a crucial role in the assembly and function of the ribosome by interacting with other ribosomal proteins and ribosomal RNA.

Function

As part of the 40S subunit, 40S Ribosomal Protein S17 helps in the decoding of messenger RNA (mRNA) during translation. It is involved in the recognition of the start codon on the mRNA and the initiation of protein synthesis.

Clinical Significance

Mutations in the RPS17 gene have been associated with Diamond-Blackfan anemia, a rare genetic disorder characterized by a failure of the bone marrow to produce an adequate number of red blood cells. Studies have shown that mutations in ribosomal proteins, including RPS17, can disrupt ribosome function and lead to various human diseases.