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KDM6A gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KDM6A gene

The KDM6A gene encodes an enzyme critical for gene regulation and tumor suppression, with variants linked to Kabuki syndrome and various cancers.

Normal Function

The KDM6A gene provides instructions for making an enzyme called lysine-specific demethylase 6A. This enzyme functions as a histone demethylase, which modifies histones—structural proteins that bind to DNA and give chromosomes their shape.

By removing a methyl group from histones (a process called demethylation), this enzyme regulates the activity of genes important for development. Additionally, lysine-specific demethylase 6A is believed to act as a tumor suppressor, helping to prevent cells from growing and dividing in an uncontrolled way.

Health Conditions Related to Genetic Changes

Kabuki syndrome

Variants in the KDM6A gene have been identified in people with Kabuki syndrome, a disorder characterized by distinctive facial features, intellectual disability, and other physical abnormalities.

  • Genetic Changes: Most variants delete genetic material or result in a premature stop signal, leading to a nonfunctional enzyme.
  • Impact: The lack of functional enzyme disrupts histone demethylation and gene regulation, leading to developmental abnormalities.
  • Cancer Risk: Despite the enzyme's role as a tumor suppressor, loss of function does not appear to increase cancer risk in individuals with Kabuki syndrome.

Bladder cancer

Somatic variants (acquired during a lifetime and not inherited) in the KDM6A gene have been found in cases of bladder cancer.

  • Non-muscle invasive bladder cancer (NMIBC): About half of these tumors contain KDM6A variants that change single amino acids, impairing the enzyme's function.
  • Consequence: Disrupted gene regulation in bladder cells likely leads to uncontrolled cell division and tumor formation.

Cancers

Somatic variants in KDM6A have been identified in several other cancers, including:

  • Breast, esophageal, colon, kidney, and brain cancers
  • Myeloid leukemia
  • Multiple myeloma

Most of these variants result in a nonfunctional enzyme that can no longer perform its role as a tumor suppressor.

Frequently Asked Questions

lthough KDM6A functions as a tumor suppressor, studies have shown that individuals with Kabuki syndrome do not have an increased overall risk of bladder cancer. The mutation’s effect on cancer risk appears to be limited to sporadic, somatic changes that occur later in life rather than the inherited germline variant seen in Kabuki syndrome.
clinical diagnosis is usually supported by a targeted gene panel that includes KDM6A, or by whole‑exome sequencing. The test requires a blood or saliva sample; no special fasting or medication changes are needed. Results are typically reported as pathogenic, likely pathogenic, or variant of uncertain significance, and a genetic counselor can help interpret them.
Somatic KDM6A mutations are found in about 50% of non‑muscle invasive bladder cancers. While the mutation itself is not yet a standard biomarker for therapy, it may indicate a more aggressive tumor biology. Some clinical trials are exploring epigenetic drugs that target histone demethylation pathways, but currently treatment decisions are based on tumor stage, grade, and response to standard intravesical therapy.
Because the germline variant does not confer a known increased cancer risk, routine cancer screening follows general population guidelines. However, if the individual has a family history of cancers or other risk factors, a personalized plan—including regular physical exams and age‑appropriate imaging—may be advised. A genetic counselor can tailor surveillance based on personal and family history.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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