RPL17
Description
The RPL17 (ribosomal protein L17) is a protein-coding gene located on chromosome 18.
The RPL17 gene encodes a protein called Large ribosomal subunit protein uL22. This protein is part of the large (60S) subunit of ribosomes, the cellular machinery that manufactures proteins. Ribosomes are made up of RNA molecules and numerous proteins, and RPL17 belongs to a family of proteins called L22P. This gene is located in the cytoplasm of cells, and it has been referred to as RPL23 due to its similarity to ribosomal protein L23 from a different organism. However, its official name is RPL17. There are two slightly different versions of this gene, but both produce the same protein. Like many genes involved in ribosome production, there are copies of RPL17 that are not functional (pseudogenes) scattered throughout the human genome.
RPL17 is a component of the large ribosomal subunit, which is responsible for protein synthesis in the cell.
RPL17 is also known as L17, PD-1, RPL23, uL22.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- endometrial cancer
- qualitative or quantitative defects of dystrophin
- cancer
- aniridia
