RPL36
Description
The RPL36 (ribosomal protein L36) is a protein-coding gene located on chromosome 19.
The RPL36 gene encodes a ribosomal protein that is a component of the 60S subunit, a part of the ribosome, the cellular machinery responsible for protein synthesis. This gene belongs to the L36E family of ribosomal proteins and is located in the cytoplasm. While multiple transcript variants exist due to alternative splicing, they all encode the same protein. Additionally, there are numerous processed pseudogenes of this gene scattered across the genome.
RPL36 is a component of the large ribosomal subunit, which is responsible for protein synthesis in the cell. This function has been experimentally validated by multiple studies (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547).
RPL36 is also known as L36, eL36.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Diamond-Blackfan anemia
- combined oxidative phosphorylation deficiency
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- myoepithelial tumor
- aniridia
- hemophilia A
- cystinosis
- Alport syndrome
- hemophilia B
