RPL36AL

From WikiMD's Wellness Encyclopedia

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

References[edit | edit source]

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