RPS17L Antibody (Center) Blocking Peptide

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]

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: Translation; Ribosomal

Chromosomal Location of Human Ortholog: 15q

Cellular Component: cytosol; focal adhesion; membrane; nucleoplasm

Biological Process: erythrocyte homeostasis; mRNA catabolic process, nonsense-mediated decay; ribosomal small subunit assembly and maintenance; ribosomal small subunit biogenesis and assembly; rRNA processing; SRP-dependent cotranslational protein targeting to membrane; translation; translational initiation; viral transcription

Disease: Diamond-blackfan Anemia 4