RPL36AL

RPL36AL is a gene that encodes the ribosomal protein L36a-like in humans. The protein encoded by this gene is a component of the 60S subunit of the ribosome. Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit.

Function

The protein encoded by the RPL36AL gene is a part of the 60S subunit. The 60S subunit is the larger of the two subunits of a functional ribosome. It is involved in the protein synthesis process, where it binds to the mRNA and aids in the formation of a polypeptide chain.

Structure

The RPL36AL gene is located on the X chromosome, specifically at Xq22.1. The gene spans approximately 1.3 kilobases and consists of four exons. The encoded protein is 96 amino acids in length.

Clinical Significance

Mutations in the RPL36AL gene have been associated with Diamond-Blackfan anemia, a rare congenital bone marrow failure syndrome characterized by red blood cell aplasia.

See Also

• Ribosome
• Protein synthesis
• Diamond-Blackfan anemia

References

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