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.
Involvement in disease
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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