Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
[lamellar 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
.
Diseases
Validation
Diseases presenting
"leading to ichthyosis phenotypes from malformation of the stratum corneum lipid barrier"
symptom
harlequin ichthyosis
lamellar ichthyosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom