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The nuclear pore complex: disease associations and functional correlations.
[triple a syndrome]
Nuclear
pore
complexes
(
NPCs
)
are
large
protein
structures
spanning
the
double
membrane
of
the
eukaryotic
nucleus
that
serve
as
sites
for
translocation
of
macromolecules
between
the
nucleus
and
the
cytoplasm
.
The
vertebrate
NPC
has
recently
been
found
to
comprise
approximately
30
distinct
proteins
,
collectively
referred
to
as
nucleoporins
.
Studies
over
the
past
several
years
have
demonstrated
that
individual
nucleoporins
have
unique
roles
in
regulating
NPC
function
and
the
nucleocytoplasmic
transport
of
proteins
and
RNAs
.
The
unique
functions
of
individual
nucleoporins
have
been
made
most
clear
through
their
associations
with
specific
human
diseases
.
Here
,
we
highlight
the
relationships
between
individual
nucleoporins
and
disease
,
with
particular
emphasis
given
to
ALADIN
,
a
nucleoporin
linked
to
a
genetically
heritable
human
disease
known
as
triple
A
syndrome
.