RPS24 (40S ribosomal protein S24) is a component of the 40S ribosomal subunit required for the processesing of pre-rRNA and maturation of the 40S ribosomal subunits. Defects in the RPS24 gene are the cause of Diamond-Blackfan anemia type 3 (DBA3) [MIM:610629]. DBA3 is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies [taken from the Universal Protein Resource (UniProt) www.uniprot.org/uniprot/P62847].