The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent concentration. PubMed: 20206555
Use a concentration of 0.1 - 0.3 µg/ml. Detects a band of approximately 15 kDa (predicted molecular weight: 16 kDa).
Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.
Defects in RPS19 are the cause of Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]. DBA1 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 S19e family.
Nucleus. Located more specifically in the nucleoli.
Horos R et al. Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts. Blood119:262-72 (2012).
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Ponpuak M et al. Delivery of cytosolic components by autophagic adaptor protein p62 endows autophagosomes with unique antimicrobial properties. Immunity32:329-41 (2010).
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