RPL4
Description
The RPL4 (ribosomal protein L4) is a protein-coding gene located on chromosome 15.
60S ribosomal protein L4 is a protein that in humans is encoded by the RPL4 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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E 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.
Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.
RPL4 is also known as L4, uL4.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- endometrial cancer
- qualitative or quantitative defects of dystrophin
- thyroid gland adenocarcinoma
- exstrophy-epispadias complex
- aniridia
- cystinosis
- hemophilia A
- Alport syndrome
- hemophilia B