RPL35 est un gène codé par le symbole RPL35. Il est également connu sous le nom de: 60S ribosomal protein L35; Large ribosomal subunit protein uL29. RPL35 a une masse de 14.55kDa, une longueur d'acide aminé de 123, et est impliqué dans Diamond-Blackfan anemia 19.
Nous proposons 6 des anticorps contre RPL35, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF 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 ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
Implication dans la maladie
Diamond-Blackfan anemia 19: 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. DBA19 inheritance is autosomal dominant.
Similitudes de séquence
Belongs to the universal ribosomal protein uL29 family.
