RPL6
Description
The RPL6 (ribosomal protein L6) is a protein-coding gene located on chromosome 12.
RPL6, or 60S ribosomal protein L6, is a protein encoded by the human RPL6 gene. It is a component of the large (60S) subunit of ribosomes, the cellular machinery responsible for protein synthesis. Ribosomes are composed of RNA and proteins, and RPL6 belongs to the L6E family of ribosomal proteins. RPL6 is found in the cytoplasm and can bind to the Tax-responsive enhancer element of human T-cell leukemia virus type 1, suggesting potential involvement in viral transcription. There are multiple pseudogenes of RPL6 dispersed throughout the genome, and two splice variants of the gene have been identified. RPL6 has been shown to interact with basic fibroblast growth factor.
RPL6 is a component of the large ribosomal subunit, which is responsible for protein synthesis in the cell.
RPL6 is also known as L6, SHUJUN-2, TAXREB107, TXREB1, eL6.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- Noonan syndrome
- metachondromatosis
- Noonan syndrome with multiple lentigines
- aniridia
- hemophilia A
- Alport syndrome
- cystinosis
- hemophilia B
