RPL18 est un gène codé par le symbole RPL18. Il est également connu sous le nom de: 60S ribosomal protein L18; Large ribosomal subunit protein eL18. RPL18 a une masse de 21.63kDa, une longueur d'acide aminé de 188, et est impliqué dans Diamond-Blackfan anemia 18.
Nous proposons 6 des anticorps contre RPL18, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Component of the large ribosomal subunit.
Résumé 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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the eukaryotic ribosomal protein eL18 family.
Localisation cellulaire
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).
