RPS24 Antibody – Rabbit Polyclonal

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 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 S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]

RPS24: Required for processing of pre-rRNA and maturation of 40S ribosomal subunits. Defects in RPS24 are the cause of Diamond-Blackfan anemia type 3 (DBA3). 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. Belongs to the ribosomal protein S24e family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: RNA-binding; Translation; Ribosomal

Chromosomal Location of Human Ortholog: 10q22

Cellular Component: small ribosomal subunit; membrane; cytoplasm; nucleolus; nucleus; cytosol

Molecular Function: structural constituent of ribosome; translation initiation factor binding; nucleotide binding

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; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); cellular protein metabolic process; translational elongation; translational initiation; mRNA catabolic process, nonsense-mediated decay; gene expression; viral transcription; rRNA processing

Disease: Diamond-blackfan Anemia 3