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 ...
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 b ...
.
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 DNA-binding domain, a DHHC-type zinc finger, six
PHD-type zinc fingers, a
SET domain
Set, The Set, SET or SETS may refer to:
Science, technology, and mathematics Mathematics
*Set (mathematics), a collection of elements
* Category of sets, the category whose objects and morphisms are sets and total functions, respectively
Electr ...
, a post-SET domain and a
RING-type zinc finger. 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 with
NCOA6
Nuclear receptor coactivator 6 is a protein that in humans is encoded by the ''NCOA6'' gene.
Function
The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcrip ...
and
RBBP5
Retinoblastoma-binding protein 5 is a protein that in humans is encoded by the ''RBBP5'' gene.
Function
The protein encoded by this gene is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat prote ...
.
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]
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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