RPL29
Description
The RPL29 (ribosomal protein L29) is a protein-coding gene located on chromosome 3.
The RPL29 gene encodes a protein called 60S ribosomal protein L29, which is part of the large (60S) subunit of the ribosome. Ribosomes are essential cellular structures that produce proteins. RPL29 belongs to a family of ribosomal proteins called L29E. This protein can also be found on the surface of cells, where it binds to heparin. Although it was initially thought to be located on chromosome 3q29-qter, it is now believed to be on chromosome 3p21.3-p21.2. Multiple copies of this gene, known as pseudogenes, are dispersed throughout the human genome.
RPL29 is a component of the large ribosomal subunit, which is essential for protein synthesis. It is found within the ribosome, a complex of RNA and proteins that plays a key role in translating genetic information into functional proteins. (PubMed:12962325, PubMed:23636399, PubMed:32669547)
RPL29 is also known as HIP, HUMRPL29, L29, RPL29P10, RPL29_3_370, eL29.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- aniridia
- Alport syndrome
- cystinosis
- hemophilia A
- hemophilia B
- silver-Russell syndrome due to 11p15 microduplication
