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The calcium-sensing receptor and related diseases.
[familial hypocalciuric hypercalcemia]
The
calcium-sensing
receptor
(
CASR
)
adjusts
the
extracellular
calcium
set
point
regulating
PTH
secretion
and
renal
calcium
excretion
.
The
receptor
is
expressed
in
several
tissues
and
is
also
involved
in
other
cellular
functions
such
as
proliferation
,
differentiation
and
other
hormonal
secretion
.
High
extracellular
calcium
levels
activate
the
receptor
resulting
in
modulation
of
several
signaling
pathways
depending
on
the
target
tissues
.
Mutations
in
the
CASR
gene
can
result
in
gain
or
loss
of
receptor
function
.
Gain
of
function
mutations
are
associated
to
Autossomal
dominant
hypocalcemia
and
Bartter
syndrome
type
V
,
while
loss
of
function
mutations
are
associated
to
Familial
hypocalciuric
hypercalcemia
and
Neonatal
severe
hyperparathyroidism
.
More
than
one
hundred
mutations
were
described
in
this
gene
.
In
addition
to
calcium
,
the
receptor
also
interacts
with
several
ions
and
polyamines
.
The
CASR
is
a
potential
therapeutic
target
to
treatment
of
diseases
including
hyperparathyroidism
and
osteoporosis
,
since
its
interaction
with
pharmacological
compounds
results
in
modulation
of
PTH
secretion
.
Diseases
Validation
Diseases presenting
"calcium excretion"
symptom
adrenal incidentaloma
aromatase deficiency
familial hypocalciuric hypercalcemia
kabuki syndrome
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