RPL23
Description
The RPL23 (ribosomal protein L23) is a protein-coding gene located on chromosome 17.
The RPL23 gene in humans provides instructions for making a protein that is part of the large (60S) subunit of the ribosome. Ribosomes are cellular structures responsible for protein synthesis. This protein is classified as belonging to the L14P family of ribosomal proteins and is located in the cytoplasm. The gene was initially named RPL17 due to its similarity to a ribosomal protein in yeast, but its official symbol is RPL23. There are multiple copies of this gene scattered throughout the human genome, although these copies are inactive (pseudogenes).
RPL23 is also known as L23, rpL17, uL14.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Diamond-Blackfan anemia
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- aniridia
- hemophilia B
- Alport syndrome
- cystinosis
- hemophilia A
