Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Lysine-spezifische Demethylase 6A

Das KDM6A-Gen kodiert ein Protein, welches für die Demthylierung von Histon 3 verantwortlich ist. Die Region auf dem X-Chromosom entspricht dem Y-chromosomalen Gen TPR. Mutationen führen zu X-chromosomal dominantem Kabuki-Syndrom 2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Kabuki-Syndrom 2
KDM6A

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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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7.

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

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8.

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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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.

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

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11.

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

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12.

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

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13.

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

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14.

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

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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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17.

Orphanet article

Orphanet ID 290568 [^]
18.

NCBI article

NCBI 7403 [^]
19.

OMIM.ORG article

Omim 300128 [^]
Update: 29. April 2019