Defects in RPS26 are the cause of Diamond-Blackfan anemia type 10 (DBA10). It 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. Belongs to the ribosomal protein S26e family. Note: This description may include information from UniProtKB.
Protein type: Ribosomal protein; Translation
Chromosomal Location of Human Ortholog: 12q13
Cellular Component: small ribosomal subunit; membrane; cytoplasm; nucleolus; cytosol
Molecular Function: mRNA binding; protein binding; structural constituent of ribosome
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.