This gene encodes a protein that is part of the large ribosomal unit, and its haploinsufficiency (amid other ribosomal proteins, such as RPL5 and RPL26, that impair the processing of pre-RNAs and the subsequent maturation of the ribosomal subunits) is the most common causative mechanism of the autosomal dominant disorder Diamond-Blackfan anemia (OMIM #612562). The gene discussed is RPL5; the disease is Blackfan-Diamond anemia.