RPL3
Description
The RPL3 (ribosomal protein L3) is a protein-coding gene located on chromosome 22.
The RPL3 gene encodes a ribosomal protein that is a component of the 60S subunit of ribosomes, which are involved in protein synthesis. The protein is part of the L3P family and is found in the cytoplasm. It can bind to HIV-1 TAR mRNA and may play a role in tat-mediated transactivation. The gene is co-transcribed with several small nucleolar RNA genes located within its introns. Multiple splice variants encoding different isoforms have been identified. Like other ribosomal protein genes, RPL3 has multiple processed pseudogenes dispersed throughout the genome.
RPL3 is a component of the large ribosomal subunit, which is a ribonucleoprotein complex responsible for protein synthesis in cells. (PubMed:12962325, PubMed:23636399, PubMed:32669547)
RPL3 is also known as ASC-1, L3, TARBP-B, uL3.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- endometrial cancer
- qualitative or quantitative defects of dystrophin
- aniridia
- hemophilia A
- cystinosis
