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KMT2A: Umbrella Gene for Multiple Diseases.

Genes - 15 Mar 2022

Castiglioni Silvia, Di Fede Elisabetta, Bernardelli Clara, Lettieri Antonella, Parodi Chiara, Grazioli Paolo, Colombo Elisa Adele, Ancona Silvia, Milani Donatella, Ottaviano Emerenziana, Borghi Elisa, Massa Valentina, Ghelma Filippo, Vignoli Aglaia, Lesma Elena, Gervasini Cristina

Abstract excerpt

KMT2A (Lysine methyltransferase 2A) is a member of the epigenetic machinery, encoding a lysine methyltransferase responsible for the transcriptional activation through lysine 4 of histone 3 (H3K4) methylation. KMT2A has a crucial role in gene expression, thus it is associated to pathological conditions when found mutated. KMT2A germinal mutations are associated to Wiedemann-Steiner syndrome and also in patients...

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Identifiers

PMID: 35328068
DOI: 10.3390/genes13030514
PMCID: PMC8949091

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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