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The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis.
[lamellar ichthyosis]
ABCA
12
is
a
member
of
the
large
superfamily
of
ATP-binding
cassette
(
ABC
)
transporters
,
which
bind
and
hydrolyze
ATP
to
transport
various
molecules
across
limiting
membranes
or
into
vesicles
.
The
ABCA
subfamily
members
are
thought
to
be
lipid
transporters
.
ABCA
12
is
a
keratinocyte
transmembrane
lipid
transporter
protein
associated
with
the
transport
of
lipids
in
lamellar
granules
to
the
apical
surface
of
granular
layer
keratinocytes
.
Extracellular
lipids
,
including
ceramide
,
are
thought
to
be
essential
for
skin
barrier
function
.
ABCA
12
mutations
are
known
to
underlie
the
three
main
types
of
autosomal
recessive
congenital
ichthyoses
:
harlequin
ichthyosis
,
lamellar
ichthyosis
and
congenital
ichthyosiform
erythroderma
.
ABCA
12
mutations
lead
to
defective
lipid
transport
via
lamellar
granules
in
the
keratinocytes
,
resulting
in
malformation
of
the
epidermal
lipid
barrier
and
ichthyosis
phenotypes
.
Studies
of
ABCA
12
-
deficient
model
mice
indicate
that
lipid
transport
by
ABCA
12
is
also
indispensable
for
intact
differentiation
of
keratinocytes
.