Histone-lysine N-methyltransferase KMT5B is an
enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different mol ...
that in humans is encoded by the ''KMT5B''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
The enzyme along with
NSD2
Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the ''NSD2'' gene.
This gene encodes a protein that contains several domain types present in other developmental proteins: PWWP domains, an HMG box, a SE ...
is responsible for dimethylation of
lysine
Lysine (symbol Lys or K) is an α-amino acid that is a precursor to many proteins. Lysine contains an α-amino group (which is in the protonated form when the lysine is dissolved in water at physiological pH), an α-carboxylic acid group ( ...
20 on
histone H4
Histone H4 is one of the five main histone proteins involved in the structure of chromatin in eukaryote, eukaryotic cells. Featuring a main globular domain and a long N-terminus, N-terminal tail, H4 is involved with the structure of the nucleo ...
in mouse and humans.
This gene encodes a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that contains a
SET domain
The SET domain is a protein domain that typically has methyltransferase activity. It was originally identified as part of a larger conserved region present in the ''Drosophila'' Trithorax protein and was subsequently identified in the ''Drosophi ...
. 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.
Role in pathology
Mutations of the KMT5B gene cause
autosomal dominant intellectual developmental disorder 51, a condition first described in 2017 by Stessman et al.
References
Further reading
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