RPS17 Antibody – Rabbit Polyclonal

RPS17: Defects in RPS17 are the cause of Diamond-Blackfan anemia type 4 (DBA4). DBA4 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 S17e family.

Protein type: Ribosomal; Translation

Chromosomal Location of Human Ortholog: 15q

Cellular Component: focal adhesion; membrane; ribosome; cytosol

Molecular Function: structural constituent of ribosome

Biological Process: SRP-dependent cotranslational protein targeting to membrane; viral reproduction; translation; viral infectious cycle; translational termination; ribosomal small subunit biogenesis and assembly; erythrocyte homeostasis; translational elongation; cellular protein metabolic process; mRNA catabolic process, nonsense-mediated decay; translational initiation; ribosomal small subunit assembly and maintenance; gene expression; viral transcription; rRNA processing

Disease: Diamond-blackfan Anemia 4