RSPH3

Description

The RSPH3 gene, located on chromosome 17, encodes a protein essential for ribosome biogenesis. Ribosomes are cellular machinery responsible for protein synthesis, a fundamental process for life. RSPH3 plays a crucial role in assembling the small ribosomal subunit, a vital component of the ribosome. Mutations in RSPH3 can disrupt this assembly process, leading to various cellular dysfunctions.

Associated Diseases

• Diamond-Blackfan Anemia (DBA): A rare congenital disorder characterized by red blood cell deficiency due to impaired ribosome production.
• 5q- Syndrome: A hematological disorder marked by low blood cell counts, often associated with defects in ribosome biogenesis, including RSPH3 mutations.

Did you know?

RSPH3 mutations are not only associated with blood disorders but also have been implicated in cancer development, highlighting the broad impact of ribosome dysfunction on human health.