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Familial intrahepatic cholestasis 1: studies of localization and function.
[benign recurrent intrahepatic cholestasis]
Mutations
in
the
FIC
1
gene
constitute
the
molecular
defect
in
familial
intrahepatic
cholestasis
I
(
Fic
1
[
Byler
's
disease
]
)
and
benign
recurrent
intrahepatic
cholestasis
.
This
report
describes
the
localization
of
Fic
1
in
rat
liver
and
intestine
,
as
well
as
biochemical
and
transfection
studies
that
support
its
function
as
an
energy-dependent
aminophospholipid
translocase
.
Immunocytochemistry
of
rat
liver
and
immunoblotting
of
membrane
fractions
localized
Fic
1
to
the
canalicular
,
but
not
basolateral
,
plasma
membrane
domain
.
In
the
small
intestine
,
Fic
1
was
localized
to
the
apical
membrane
of
epithelial
cells
.
The
distribution
of
Fic
1
in
liver
plasma
membrane
fractions
from
control
and
taurocholate-treated
rats
correlated
positively
with
adenosine
triphosphate
(
ATP
)
-
dependent
aminophospholipid
(
phosphatidyl-serine
)
translocase
activity
.
In
canalicular
membrane
vesicles
,
translocase
activity
had
an
initial
velocity
of
3
.
3
nmol
phosphatidylserine
(
PS
)
translocated
per
milligram
of
protein
per
minute
and
a
K
(
m
)
(
ATP
)
=
1
.
2
mmol
/
L
;
was
inhibited
by
vanadate
,
N-
ethylmaleimide
,
sodium
azide
,
and
calcium
;
and
was
unidirectional
(
i
.
e
.
,
from
the
outer
to
the
inner
canalicular
plasma
membrane
leaflet
)
.
Transient
transfection
of
CHOK
1
cells
with
FIC
1
cDNA
resulted
in
appearance
of
FIC
1
in
membrane
preparations
and
energy-dependent
PS
translocation
in
cells
.
These
studies
indicate
that
FIC
1
is
a
canalicular
P-
type
ATPase
that
participates
in
maintaining
the
distribution
of
aminophospholipids
between
the
inner
and
outer
leaflets
of
the
plasma
membrane
.
How
this
process
produces
cholestasis
is
under
study
.
Diseases
Validation
Diseases presenting
"intrahepatic cholestasis"
symptom
benign recurrent intrahepatic cholestasis
zellweger syndrome
This symptom has already been validated
