RPL18 è un gene codificato dal simbolo RPL18. È noto anche come: 60S ribosomal protein L18; Large ribosomal subunit protein eL18. RPL18 ha una massa di 21.63kDa, una lunghezza di amminoacidi di 188, ed è implicato in Diamond-Blackfan anemia 18.
Offriamo 6 anticorpi contro RPL18, allevati nel Coniglio, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Component of the large ribosomal subunit.
Sommario di Entrez
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 member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Coinvolgimento nella malattia
Diamond-Blackfan anemia 18: 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. DBA18 inheritance is autosomal dominant.
Somiglianze di sequenza
Belongs to the eukaryotic ribosomal protein eL18 family.
Posizione cellulare
Cytoplasm > Cytosol. Cytoplasm. Rough endoplasmic reticulum.
Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity).
