RPL35A Antibody – Rabbit Polyclonal

RPL35A: Required for the proliferation and viability of hematopoietic cells. Plays a role in 60S ribosomal subunit formation. The protein was found to bind to both initiator and elongator tRNAs and consequently was assigned to the P site or P and A site. Defects in RPL35A are the cause of Diamond-Blackfan anemia type 5 (DBA5). DBA5 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 L35Ae family.

Protein type: RNA-binding; Ribosomal; Translation

Chromosomal Location of Human Ortholog: 3q29

Cellular Component: membrane; mitochondrion; cytosol

Molecular Function: structural constituent of ribosome; tRNA binding

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

Disease: Diamond-blackfan Anemia 5