RPL34
Description
The RPL34 (ribosomal protein L34) is a protein-coding gene located on chromosome 4.
The RPL34 gene encodes a ribosomal protein that is a part of the 60S subunit of ribosomes, the cellular machinery responsible for protein synthesis. It belongs to the L34E family of ribosomal proteins and is found in the cytoplasm. Initially thought to be located on chromosome 17, RPL34 has been mapped to chromosome 4. Multiple variations of the gene exist due to alternative splicing, transcription initiation sites, and polyadenylation, all of which encode the same protein. Like many ribosomal protein genes, RPL34 has multiple processed pseudogenes throughout the genome.
RPL34 is a component of the large ribosomal subunit, which is essential for protein synthesis in the cell. This function has been experimentally validated through numerous studies.
RPL34 is also known as L34, eL34.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- aniridia
- pachyonychia congenita
- cystinosis
- hemophilia A
- hemophilia B
