RPS27L

RPS27L is a protein that in humans is encoded by the RPS27L gene. The protein encoded by this gene is a component of the 40S subunit of the ribosome. This gene is located on the short arm of chromosome 1. The protein encoded by this gene is involved in protein synthesis and cell growth.

Function

The RPS27L protein is a component of the 40S subunit of the ribosome, which is the cellular machinery that translates mRNA into protein. The ribosome is composed of two subunits, the 40S (small) and the 60S (large). The 40S subunit is responsible for reading the mRNA, while the 60S subunit is responsible for forming the peptide bonds that link the amino acids together to form a protein. The RPS27L protein is one of the proteins that make up the 40S subunit.

Clinical significance

Mutations in the RPS27L gene have been associated with Diamond-Blackfan anemia, a rare genetic disorder that affects the bone marrow's ability to produce red blood cells. Patients with this disorder often have anemia, which can cause fatigue, weakness, and pale skin. Other symptoms can include short stature, heart defects, and an increased risk of certain types of cancer.

See also

• Ribosome
• Protein synthesis
• Diamond-Blackfan anemia

References

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