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Nuclear and nucleolar localization signals within the human ribosomal protein S17 have been mapped.
Human S17 insertion was a major factor for hepatitis E virus in cell culture adaptation.
Data show 1 proband with an RPL5 (zeige RPL5 Proteine) deletion, 1 patient with an RPL35A (zeige RPL35A Proteine) deletion, 3 with RPS17 deletions, and 1 with an RPS19 (zeige RPS19 Proteine) deletion.
Studies identified deletions at known Diamond-Blackfan anemia (DBA (zeige RPS19 Proteine))-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19 (zeige RPS19 Proteine), RPS17, RPS26 (zeige RPS26 Proteine), and RPL35A (zeige RPL35A Proteine).
Data show in Diamond-Blackfan anemia, mutation in RPS17 wasn detected and the mutation affects the translation initiation start codon, changing T to G (c.2T>G), thus eliminating the natural start of RPS17 protein biosynthesis
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 40S subunit. The protein belongs to the S17E 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.
, ribosomal protein S17
, 40S ribosomal protein S17