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The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis.
[harlequin 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
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated