XRN1 (gene)

XRN1 is a gene that encodes a 5'-3' exoribonuclease in humans. This enzyme is involved in the degradation of mRNA in the cytoplasm. The XRN1 gene is located on the long (q) arm of chromosome 3 at position 26.1.

Function

The XRN1 gene provides instructions for making an enzyme called 5'-3' exoribonuclease 1. This enzyme is involved in the process of gene expression, which is the way in which a gene's DNA sequence is converted into a functional product. Specifically, the 5'-3' exoribonuclease 1 enzyme helps to break down messenger RNAs (mRNAs) that are no longer needed by the cell. This process is known as mRNA decay and is crucial for the regulation of gene expression.

Clinical significance

Mutations in the XRN1 gene have been associated with various diseases. For example, a study published in 2016 found that a mutation in this gene was associated with a form of hereditary spastic paraplegia, a group of inherited disorders characterized by progressive weakness and stiffness of the legs.

See also

• Exoribonuclease
• Gene expression
• mRNA decay
• Hereditary spastic paraplegia

References

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