RPS4Y1
Description
The RPS4Y1 (ribosomal protein S4 Y-linked 1) is a protein-coding gene located on chromosome Y.
40S ribosomal protein S4, Y isoform 1 is a protein that in humans is encoded by the RPS4Y1 gene. Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene, RPS4Y2 and the ribosomal protein S4, X-linked (RPS4X). The 3 isoforms encoded by these genes are not identical, but appear to be functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial.
RPS4Y1, also known as ribosomal protein S4, Y isoform 1, is a component of the small 40S subunit of ribosomes. Ribosomes are organelles that synthesize proteins, and this subunit is essential for the process. RPS4Y1 is part of the S4E family of ribosomal proteins, and while it has multiple isoforms encoded by different genes (RPS4Y2 and RPS4X), they all appear to perform the same function. Some studies have suggested that a deficiency in RPS4Y1 may play a role in Turner syndrome, but this theory remains debated.
RPS4Y1 is also known as RPS4Y, S4.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- COVID-19
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- aniridia
- Alport syndrome
- cystinosis
- hemophilia A
- hemophilia B
