Aliases for RPS17 Gene
External Ids for RPS17 Gene
Previous HGNC Symbols for RPS17 Gene
Previous GeneCards Identifiers for RPS17 Gene
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four 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 and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]
GeneCards Summary for RPS17 Gene
RPS17 (Ribosomal Protein S17) is a Protein Coding gene. Diseases associated with RPS17 include diamond-blackfan anemia 4 and rps17-related diamond-blackfan anemia. Among its related pathways are Disease and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include structural constituent of ribosome.