RPS4X
Description
The RPS4X (ribosomal protein S4 X-linked) is a protein-coding gene located on chromosome X.
RPS4X encodes ribosomal protein S4, a component of the 40S subunit of ribosomes, the cellular machinery responsible for protein synthesis. While ribosomal protein S4 is typically encoded by more than one gene, RPS4X and RPS4Y, the isoforms produced are functionally equivalent. Notably, RPS4X is not subject to X-inactivation, and some studies suggest its haploinsufficiency may contribute to Turner syndrome, though this remains controversial. This gene also has multiple processed pseudogenes dispersed throughout the genome.
RPS4X, also known as 40S ribosomal protein S4, is a component of the small ribosomal subunit, which is responsible for protein synthesis. RPS4X is part of the small subunit (SSU) processome, a complex involved in the assembly of the small eukaryotic ribosomal subunit. The SSU processome forms in the nucleolus and involves various factors, including ribosome biogenesis factors, RNA chaperones, and ribosomal proteins. These components work together to fold, modify, rearrange, and cleave pre-ribosomal RNA. The RNA exosome also plays a role in degrading pre-ribosomal RNA.
RPS4X is also known as CCG2, DXS306, RPS4, S4, SCAR, SCR10, eS4.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- COVID-19
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- aniridia
- cystinosis
- hemophilia A
- Alport syndrome
- hemophilia B
- cancer
