RPS12

Description

The RPS12 (ribosomal protein S12) is a protein-coding gene located on chromosome 6.

RPS12 is a human gene that encodes for 40S ribosomal protein S12, a protein that is a crucial part of ribosomes. Ribosomes are cellular organelles responsible for protein synthesis. They consist of two subunits: a smaller 40S subunit and a larger 60S subunit. These subunits are comprised of four types of RNA and approximately 80 distinct proteins, including RPS12. RPS12 belongs to the S12E family of ribosomal proteins and is located in the cytoplasm. Studies have shown that RPS12 is expressed at higher levels in colorectal cancers compared to normal colonic mucosa. Like other genes encoding ribosomal proteins, RPS12 has multiple processed pseudogenes scattered throughout the human genome.

RPS12 is a component of the small subunit (SSU) processome, the initial precursor of the small eukaryotic ribosomal subunit. Within the nucleolus, RPS12, along with other ribosome biogenesis factors, an RNA chaperone, and additional ribosomal proteins, associates with the newly formed pre-rRNA. This complex works together to accomplish RNA folding, modifications, rearrangements, and cleavage, as well as targeted degradation of pre-ribosomal RNA via the RNA exosome. RPS12 is also a subunit of the 40S ribosomal complex.

RPS12 is also known as S12, eS12.

Associated Diseases

• Duchenne muscular dystrophy
• cystic fibrosis
• COVID-19
• lysosomal storage disease
• Becker muscular dystrophy
• qualitative or quantitative defects of dystrophin
• Parkinson disease
• aniridia
• cystinosis
• hemophilia A
• hemophilia B
• Alport syndrome