RPL36A
Description
The RPL36A (ribosomal protein L36a) is a protein-coding gene located on chromosome X.
The RPL36A gene in humans encodes the 60S ribosomal protein L36a. This protein is a part of the large (60S) subunit of ribosomes, which are essential organelles involved in protein synthesis. Ribosomes are composed of two subunits, a small 40S subunit and a large 60S subunit, and contain both RNA and proteins. RPL36A is similar in sequence to yeast ribosomal protein L44 and belongs to the L44E (L36AE) family of ribosomal proteins. While it was previously referred to as RPL44, its official name is RPL36A. There is another human gene, RPL36AL, that encodes a nearly identical protein, but it is a distinct gene. As is common for genes encoding ribosomal proteins, multiple processed pseudogenes of RPL36A exist in the human genome.
RPL36A is a component of the large ribosomal subunit, which is responsible for protein synthesis in the cell. This has been demonstrated in several studies (PubMed:23636399, PubMed:32669547).
RPL36A is also known as L36A, L44L, MIG6, RPL44, eL42.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- aniridia
- hemophilia B
- cystinosis
- hemophilia A
- Alport syndrome
