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Structural and functional mechanisms of CRAC channel regulation.
[severe combined immunodeficiency]
In
many
animal
cells
,
stimulation
of
cell
surface
receptors
coupled
to
G
proteins
or
tyrosine
kinases
mobilizes
Ca
(
2
+
)
influx
through
store-operated
Ca
(
2
+
)
release-activated
Ca
(
2
+
)
(
CRAC
)
channels
.
The
ensuing
Ca
(
2
+
)
entry
regulates
a
wide
variety
of
effector
cell
responses
including
transcription
,
motility
,
and
proliferation
.
The
physiological
importance
of
CRAC
channels
for
human
health
is
underscored
by
studies
indicating
that
mutations
in
CRAC
channel
genes
produce
a
spectrum
of
devastating
diseases
including
chronic
inflammation
,
muscle
weakness
,
and
a
severe
combined
immunodeficiency
syndrome
.
Moreover
,
from
a
basic
science
perspective
,
CRAC
channels
exhibit
a
unique
biophysical
fingerprint
characterized
by
exquisite
Ca
(
2
+
)
-
selectivity
,
store-operated
gating
,
and
distinct
pore
properties
and
therefore
serve
as
fascinating
ion
channels
for
understanding
the
biophysical
mechanisms
of
ion
permeation
and
gating
.
Studies
in
the
last
two
decades
have
revealed
the
cellular
and
molecular
choreography
of
the
CRAC
channel
activation
process
,
and
it
is
now
established
that
opening
of
CRAC
channels
is
governed
through
direct
interactions
between
the
pore-forming
Orai
proteins
,
and
the
ER
Ca
(
2
+
)
sensors
,
STIM
1
and
STIM
2
.
In
this
review
,
we
summarize
the
functional
and
structural
mechanisms
of
CRAC
channel
regulation
,
focusing
on
recent
advances
in
our
understanding
of
the
conformational
and
structural
dynamics
of
CRAC
channel
gating
.
Diseases
Validation
Diseases presenting
"severe combined immunodeficiency"
symptom
achondroplasia
alpha-thalassemia
child syndrome
cholangiocarcinoma
junctional epidermolysis bullosa
krabbe disease
omenn syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
This symptom has already been validated