Diverse functions of PHD fingers of the MLL/KMT2 subfamily.

[kabuki syndrome]

Five members of the KMT 2 family of lysine methyltransferases , originally named the mixed lineage leukemia (MLL 1 -5 ) proteins , regulate gene expression during embryogenesis and development . Each KMT 2 A -E contains a catalytic SET domain that methylates lysine 4 of histone H 3 , and one or several PHD fingers . Over the past few years a growing number of studies have uncovered diverse biological roles of the KMT 2 A -E PHD fingers , implicating them in binding to methylated histones and other nuclear proteins , and in mediating the E 3 ligase activity and dimerization . Mutations in the PHD fingers or deletion of these modules are linked to human diseases including cancer and Kabuki syndrome . In this work , we summarize recently identified biological functions of the KMT 2 A -E PHD fingers , discuss mechanisms of their action , and examine preference of these domains for histone and non-histone ligands .

Diseases
Validation

Diseases presenting "mixed lineage leukemia" symptom

esophageal squamous cell carcinoma

kabuki syndrome

neuralgic amyotrophy

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