Lysine N-methyltransferase 2C (KMT2C) also known as myeloid/lymphoid or mixed-lineage leukemia protein 3 (MLL3) is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that in humans is encoded by the ''KMT2C''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an
AT-hook
The second AT-hook of HMGA1 (black ribbon) bound to the minor-groove of AT-rich DNA. The amino-acid side chains and nucleotides have been hidden.
The AT-hook is a DNA-binding motif present in many proteins, including the high mobility group (HM ...
DNA-binding domain, a DHHC-type zinc finger, six
PHD-type zinc fingers, a
SET domain, a post-SET domain and a
RING-type zinc finger
In molecular biology, a RING (short for Really Interesting New Gene) finger domain is a protein structural domain of zinc finger type which contains a C3HC4 amino acid motif which binds two zinc cations (seven cysteines and one histidine arranged ...
. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
Interactions
MLL3 has been shown to
interact
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with
NCOA6 and
RBBP5.
[
]
Clinical significance
Mutations of the KMT2C gene cause Kleefstra syndrome-2, a neurodevelopmental disorder first described in 2012.
References
Further reading
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External links
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Transcription factors
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