Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

Orphanet article

Orphanet ID 290568 external link
18.

NCBI article

NCBI 7403 external link
19.

OMIM.ORG article

Omim 300128 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum