RPL18 ist ein Gen, das durch das Symbol RPL18 kodiert wird. Es ist auch bekannt als: 60S ribosomal protein L18; Large ribosomal subunit protein eL18. RPL18 hat eine Masse von 21.63kDa, eine Aminosäurelänge von 188, und ist an Diamond-Blackfan anemia 18 beteiligt.
Wir bieten 6 antikörper gegen RPL18, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Component of the large ribosomal subunit.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the eukaryotic ribosomal protein eL18 family.
Zellort
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).
