KDM6A (Lysine Demethylase 6A) is a gene that encodes a protein involved in the regulation of gene expression through the demethylation of histone proteins. It plays a crucial role in epigenetic regulation, which is the process by which gene activity is regulated without changes to the underlying DNA sequence.
KDM6A is often considered a tumor suppressor gene. Loss of function mutations or deletions of KDM6A have been observed in several cancers, including bladder cancer, lung cancer, and certain hematological malignancies.
In many cancers, KDM6A is often downregulated or mutated, leading to a loss of its demethylase activity. This downregulation can result in the accumulation of repressive histone marks, such as H3K27me3, which can silence tumor suppressor genes and promote oncogenic pathways.
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