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LIG4 syndrome

LIG4 syndrome or ligase IV syndrome is an extremely rare condition caused by mutations in the DNA ligase IV (LIG4) gene. Some mutations in this gene are associated with a resistance against multiple myeloma and severe combined immunodeficiency. Severity of symptoms depends on the degree of reduced enzymatic activity of Ligase IV or gene expression. Ligase IV is a critical component of the non-homologous end joining (NHEJ) mechanism that repairs DNA double-strand breaks. It is employed in repairing DNA double-strand breaks caused by reactive oxygen species produced by normal metabolism, or by DNA damaging agents such as ionizing radiation. NHEJ is also used to repair the DNA double-strand break intermediates that occur in the production of T and B lymphocyte receptors.

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