Histone-lysine N-methyltransferase KMT5B is an enzyme that in humans is encoded by the KMT5B gene.[5][6][7] The enzyme along with WHSC1 is responsible for dimethylation of lysine 20 on histone H4 in mouse and humans.[8][9]
This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). Two alternatively spliced transcript variants have been found for this gene.[7]
Mutations of the KMT5B gene cause autosomal dominant intellectual developmental disorder 51, a condition first described in 2017 by Stessman et al.[10]
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