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The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
[harlequin ichthyosis]
ATP-binding
cassette
(
ABC
)
transporters
form
a
large
superfamily
of
transporters
that
bind
and
hydrolyze
ATP
to
transport
various
molecules
across
limiting
membranes
or
into
vesicles
.
The
ABCA
subfamily
members
are
thought
to
transport
lipid
materials
.
ABCA
12
is
a
keratinocyte
transmembrane
lipid
transporter
protein
associated
with
the
transport
of
lipids
via
lamellar
granules
.
ABCA
12
is
considered
to
transport
lipids
including
ceramides
to
form
extracellular
lipid
layers
in
the
stratum
corneum
of
the
epidermis
,
which
is
essential
for
skin
barrier
function
.
ABCA
12
mutations
are
known
to
underlie
the
three
major
types
of
autosomal
recessive
congenital
ichthyoses
:
harlequin
ichthyosis
,
lamellar
ichthyosis
and
congenital
ichthyosiform
erythroderma
.
ABCA
12
mutations
result
in
defective
lipid
transport
via
lamellar
granules
in
the
keratinocytes
,
leading
to
ichthyosis
phenotypes
from
malformation
of
the
stratum
corneum
lipid
barrier
.
Studies
on
ABCA
12
-
deficient
bioengineered
models
have
revealed
that
lipid
transport
by
ABCA
12
is
required
for
keratinocyte
differentiation
and
epidermal
morphogenesis
.
Defective
lipid
transport
due
to
loss
of
ABCA
12
function
leads
to
the
accumulation
of
intracellular
lipids
,
including
glucosylceramides
and
gangliosides
,
in
the
epidermal
keratinocytes
.
The
accumulation
of
gangliosides
seems
to
result
in
the
apoptosis
of
Abca
12
(
-
/
-
)
keratinocytes
.
It
was
reported
that
AKT
activation
occurs
in
Abca
12
(
-
/
-
)
granular-layer
keratinocytes
,
which
suggests
that
AKT
activation
serves
to
prevent
the
cell
death
of
Abca
12
(
-
/
-
)
keratinocytes
.
This
article
is
part
of
a
Special
Issue
entitled
The
Important
Role
of
Lipids
in
the
Epidermis
and
their
Role
in
the
Formation
and
Maintenance
of
the
Cutaneous
Barrier
.
Guest
Editors
:
Kenneth
R
.
Feingold
and
Peter
Elias
.