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Functional analysis of the distal region of the third intracellular loop of PROKR2.
[kallmann syndrome]
Mutations
in
the
G-
protein-coupled
receptor
PROKR
2
have
been
identified
in
patients
with
idiopathic
hypogonadotropic
hypogonadism
(
IHH
)
and
Kallmann
syndrome
(
KS
)
manifesting
with
delayed
puberty
and
infertility
.
Recently
,
the
homozygous
mutation
V
274
D
was
identified
in
a
man
displaying
KS
with
an
apparent
reversal
of
hypogonadism
.
The
affected
amino
acid
,
valine
274
,
is
located
at
the
junction
region
of
the
third
intracellular
loop
(
IL
3
)
and
the
sixth
transmembrane
domain
(
TM
6
)
.
In
this
study
,
we
first
studied
the
effect
of
V
274
D
and
related
mutations
(
V
274
A
,
V
274
T
,
and
V
274
R
)
on
the
signaling
activity
and
cell
surface
expression
of
PROKR
2
.
Our
data
indicate
that
a
charged
amino
acid
substitution
at
residue
274
of
PROKR
2
results
in
low
cell
surface
expression
and
loss
-of-function
.
Furthermore
,
we
studied
the
effects
of
two
clusters
of
basic
amino
acids
located
at
the
proximal
region
of
Val
274
on
the
cell
surface
expression
and
function
of
PROKR
2
.
The
deletion
of
RRK
(
270
-
272
)
resulted
in
undetectable
cell
surface
expression
,
whereas
RKR
(
264
-
266
)
-
deleted
PROKR
2
was
expressed
normally
on
the
cell
surface
but
showed
loss
-of-function
due
to
a
deficiency
in
G-
protein
coupling
.
Our
data
indicate
that
the
distal
region
of
the
IL
3
of
PROKR
2
may
differentially
influence
receptor
trafficking
and
G-
protein
coupling
.
Diseases
Validation
Diseases presenting
"a deficiency in g-protein coupling"
symptom
kallmann syndrome
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