Histone-lysine N-methyltransferase 2D
The KMT2D gene encodes a histone methyltransferase of histone H3 that is involved in transcription control. Mutations cause autosomal dominant Kabuki syndrome 1.
Genetests:
Related Diseases:
References:
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Miyake N et al. (2013) MLL2 and KDM6A mutations in patients with Kabuki syndrome.
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Toska E et al. (2017) PI3K pathway regulates ER-dependent transcription in breast cancer through the epigenetic regulator KMT2D.
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Li Y et al. (2016) Structural basis for activity regulation of MLL family methyltransferases.
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Zhu J et al. (2015) Gain-of-function p53 mutants co-opt chromatin pathways to drive cancer growth.
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5. |
Lee JE et al. (2013) H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation.
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6. |
Morin RD et al. (2011) Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.
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Parsons DW et al. (2011) The genetic landscape of the childhood cancer medulloblastoma.
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8. |
Karlin S et al. (2002) Associations between human disease genes and overlapping gene groups and multiple amino acid runs.
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9. |
Karlin S et al. (2002) Amino acid runs in eukaryotic proteomes and disease associations.
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10. |
Banka S et al. (2012) How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
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11. |
Hannibal MC et al. (2011) Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
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12. |
Li Y et al. (2011) A mutation screen in patients with Kabuki syndrome.
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13. |
Ng SB et al. (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
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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. |
Micale L et al. (2014) Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
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16. |
Prasad R et al. (1997) Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.
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NCBI article
NCBI 8085
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18. |
OMIM.ORG article
Omim 602113
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19. |
Orphanet article
Orphanet ID 239011
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20. |
Wikipedia article
Wikipedia EN (KMT2D)
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Update: Aug. 14, 2020