RPL10L
Description
RPL10L, also known as ribosomal protein L10, is a gene encoding a crucial component of the 60S ribosomal subunit. Ribosomes are essential cellular machinery responsible for protein synthesis, a fundamental process in all living organisms. RPL10L plays a critical role in the assembly and function of ribosomes, ensuring accurate translation of genetic information into proteins. Mutations in RPL10L can disrupt this process, leading to various cellular dysfunctions and potentially contributing to the development of certain diseases.
Associated Diseases
- Diamond-Blackfan anemia (DBA): A rare, inherited bone marrow failure disorder characterized by a deficiency of red blood cells.
- Myelodysplastic syndromes (MDS): A group of blood disorders characterized by the production of abnormal blood cells.
- Cancer: Some studies suggest a potential link between RPL10L mutations and an increased risk of certain types of cancer.
- Neurodevelopmental disorders: Preliminary evidence suggests a possible association between RPL10L mutations and neurodevelopmental disorders.
Did you know?
RPL10L is a highly conserved gene, meaning its sequence is very similar across different species, highlighting its essential role in cellular function.
