RPL5

The RPL5 gene provides instructions for making a protein called ribosomal protein L5. Ribosomal proteins are components of cellular structures called ribosomes, which process the cell's genetic instructions to create proteins.

Because it is difficult to determine the specific functions of individual proteins within ribosomes, the specific function of ribosomal protein L5 is unclear. There are more than 75 different ribosomal proteins, some of which are involved in the assembly or stability of ribosomes. Others help carry out the ribosome's main function of building new proteins. Studies suggest that some ribosomal proteins may have other functions, such as participating in chemical signaling pathways within the cell, regulating cell division, and controlling the self-destruction of cells (apoptosis).

Diamond-Blackfan anemia - caused by mutations in the RPL5 gene

More than 30 RPL5 gene mutations have been identified in individuals with Diamond-Blackfan anemia. These mutations are believed to affect the stability or function of ribosomal protein L5. Studies indicate that a shortage of functioning ribosomal proteins may increase the self-destruction of blood-forming cells in the bone marrow, resulting in a low number of red blood cells (anemia). Inappropriate triggering or regulation of cell division and apoptosis may contribute to the other health problems and unusual physical features that affect some people with Diamond-Blackfan anemia.