Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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

Related Diseases:

Kabuki syndrome 2
KDM6A

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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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.

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

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8.

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

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9.

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

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10.

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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11.

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

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12.

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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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.

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

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15.

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

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16.

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

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17.

Orphanet article

Orphanet ID 290568 external link
18.

NCBI article

NCBI 7403 external link
19.

OMIM.ORG article

Omim 300128 external link
20.

Wikipedia article

Wikipedia EN (UTX_(gene)) external link
Update: Aug. 14, 2020
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