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2 min read

Last Updated: 8 August 2024

PRF1 Gene

The PRF1 gene encodes perforin, a crucial protein in immune function, facilitating the destruction of infected or malignant cells. Mutations in the PRF1 gene can lead to familial haemophagocytic lymphohistiocytosis, a severe immunodeficiency. Proper PRF1 gene function is essential for natural killer cell and cytotoxic T lymphocyte activity.

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