Rare Diseases Symptoms Automatic Extraction
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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
.
