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Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.
[harlequin ichthyosis]
ABCA
12
is
an
ATP-binding
cassette
transporter
and
is
thought
to
act
as
a
transmembrane
lipid
transporter
.
We
reported
that
deleterious
ABCA
12
mutations
cause
a
disturbance
in
lamellar
granule
(
LG
)
lipid
transport
in
the
epidermal
granular
layer
keratinocytes
,
resulting
in
harlequin
ichthyosis
,
a
severe
genodermatosis
.
Detailed
localization
of
ABCA
12
in
comparison
with
glucosylceramide
and
Golgi
apparatus
markers
were
studied
in
order
to
obtain
clues
to
clarify
the
function
(
s
)
of
ABCA
12
in
human
skin
.
We
performed
double
-labelling
immunofluorescent
staining
using
antibodies
against
ABCA
12
,
glucosylceramide
and
two
Golgi
apparatus
markers
(
TGN
46
and
GM
130
)
in
normal
human
skin
and
cultured
keratinocytes
.
Immunogold
electron
microscopy
for
ABCA
12
and
glucosylceramide
was
studied
on
postembedding
and
cryoultrathin
sections
of
normal
human
skin
.
Confocal
laser
scanning
microscopy
demonstrated
that
ABCA
12
and
glucosylceramide
co
-
localized
in
the
granular
layer
keratinocytes
as
well
as
in
keratinocytes
cultured
in
high
Ca
2
+
conditions
through
the
Golgi
apparatus
to
the
cell
periphery
.
Postembedding
immunogold
electron
microscopy
revealed
that
both
ABCA
12
and
glucosylceramide
labellings
were
associated
with
the
LG
of
the
uppermost
granular
layer
keratinocytes
.
Using
cryoultramicrotomy
,
lamellar
structures
in
the
LG
were
more
clearly
observed
,
and
ultrastructural
localization
of
ABCA
12
and
glucosylceramide
was
better
demonstrated
to
LG
in
the
uppermost
granular
layer
cells
.
These
results
indicate
that
ABCA
12
plays
an
important
role
in
lipid
transport
from
the
Golgi
apparatus
to
LG
in
human
granular
layer
keratinocytes
.
Diseases
Validation
Diseases presenting
"double-labelling immunofluorescent"
symptom
harlequin ichthyosis
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