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ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.
[harlequin ichthyosis]
Harlequin
ichthyosis
is
a
congenital
scaling
syndrome
of
the
skin
in
which
affected
infants
have
epidermal
hyperkeratosis
and
a
defective
permeability
barrier
.
Mutations
in
the
gene
encoding
a
member
of
the
ABCA
transporter
family
,
ABCA
12
,
have
been
linked
to
harlequin
ichthyosis
,
but
the
molecular
function
of
the
protein
is
unknown
.
To
investigate
the
activity
of
ABCA
12
,
we
generated
Abca
12
null
mice
and
analyzed
the
impact
on
skin
function
and
lipid
content
.
Abca
12
-
/
-
mice
are
born
with
a
thickened
epidermis
and
die
shortly
after
birth
,
as
water
rapidly
evaporates
from
their
skin
.
In
vivo
skin
proliferation
measurements
suggest
a
lack
of
desquamation
of
the
skin
cells
,
rather
than
enhanced
proliferation
of
basal
layer
keratinocytes
,
accounts
for
the
5
-
fold
thickening
of
the
Abca
12
-
/
-
stratum
corneum
.
Electron
microscopy
revealed
a
loss
of
the
lamellar
permeability
barrier
in
Abca
12
-
/
-
skin
.
This
was
associated
with
a
profound
reduction
in
skin
linoleic
esters
of
long
-chain
omega-hydroxyceramides
and
a
corresponding
increase
in
their
glucosyl
ceramide
precursors
.
Because
omega-hydroxyceramides
are
required
for
the
barrier
function
of
the
skin
,
these
results
establish
that
ABCA
12
activity
is
required
for
the
generation
of
long
-chain
ceramide
esters
that
are
essential
for
the
development
of
normal
skin
structure
and
function
.
Diseases
Validation
Diseases presenting
"but the molecular function of the protein is unknown"
symptom
harlequin ichthyosis
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