Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lysine-specific demethylase 6A

The KDM6A gene encodes an enzyme involved in demethylation of histon 3. Its region on X chromosome corresponds the Y chromosomal TPR gene. Mutations cause x-linked dominant Kabuki syndrome 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Kabuki syndrome 2
KDM6A

References:

1.

Greenfield A et. al. (1998) The UTX gene escapes X inactivation in mice and humans.

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2.

Issaeva I et. al. (2007) Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.

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3.

Agger K et. al. (2007) UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development.

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4.

Lee MG et. al. (2007) Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination.

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5.

Lan F et. al. (2007) A histone H3 lysine 27 demethylase regulates animal posterior development.

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6.

van Haaften G et. al. (2009) Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

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7.

Lederer D et. al. (2012) Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

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8.

Mansour AA et. al. (2012) The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming.

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9.

Kruidenier L et. al. (2012) A selective jumonji H3K27 demethylase inhibitor modulates the proinflammatory macrophage response.

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10.

Miyake N et. al. (2013) KDM6A point mutations cause Kabuki syndrome.

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11.

Miyake N et. al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome.

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12.

Micale L et. al. (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

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13.

Lederer D et. al. (2014) A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

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14.

Van Laarhoven PM et. al. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

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15.

Faralli H et. al. (2016) UTX demethylase activity is required for satellite cell-mediated muscle regeneration.

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16.

Liu L et. al. (2016) UTX in muscle regeneration--the right dose and the right time.

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Update: Sept. 26, 2018