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:
Related Diseases:
References:
1. |
Miyake N et al. (2013) KDM6A point mutations cause Kabuki syndrome.
|
2. |
Liu L et al. (2016) UTX in muscle regeneration--the right dose and the right time.
|
3. |
Faralli H et al. (2016) UTX demethylase activity is required for satellite cell-mediated muscle regeneration.
|
4. |
Kruidenier L et al. (2012) A selective jumonji H3K27 demethylase inhibitor modulates the proinflammatory macrophage response.
|
5. |
Mansour AA et al. (2012) The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming.
|
6. |
van Haaften G et al. (2009) Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.
|
7. |
Lan F et al. (2007) A histone H3 lysine 27 demethylase regulates animal posterior development.
|
8. |
Lee MG et al. (2007) Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination.
|
9. |
Agger K et al. (2007) UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development.
|
10. |
Issaeva I et al. (2007) Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.
|
11. |
Greenfield A et al. (1998) The UTX gene escapes X inactivation in mice and humans.
|
12. |
Van Laarhoven PM et al. (2015) Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
|
13. |
Lederer D et al. (2014) A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
|
14. |
Micale L et al. (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
|
15. |
Miyake N et al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome.
|
16. |
Lederer D et al. (2012) Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
|
17. |
Orphanet article
Orphanet ID 290568
|
18. |
NCBI article
NCBI 7403
|
19. |
OMIM.ORG article
Omim 300128
|
20. |
Wikipedia article
Wikipedia EN (UTX_(gene))
|
Update: Aug. 14, 2020