RPS14

RPS14, also known as ribosomal protein S14, is a protein-coding gene. This gene provides instructions for making a component of the small subunit of the ribosome, which is the cellular machinery responsible for protein synthesis. Ribosomes are essential for all cells as they translate messenger RNA (mRNA) into proteins. RPS14 is a vital part of the 40S ribosomal subunit.

Mutations in the RPS14 gene have been linked to certain medical conditions. One such condition is Diamond-Blackfan anemia (DBA), a rare blood disorder characterized by the failure of the bone marrow to produce red blood cells. While not all DBA cases are caused by RPS14 mutations, it is one of the genes frequently identified in individuals with this disorder. Research into RPS14 and its role in ribosome biogenesis and function continues to shed light on the mechanisms underlying DBA and potentially other related conditions.