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Lipid transport by mammalian ABC proteins.
[lamellar ichthyosis]
ABC
(
ATP-binding
cassette
)
proteins
actively
transport
a
wide
variety
of
substrates
,
including
peptides
,
amino
acids
,
sugars
,
metals
,
drugs
,
vitamins
and
lipids
,
across
extracellular
and
intracellular
membranes
.
Of
the
49
hum
an
ABC
proteins
,
a
significant
number
are
known
to
mediate
the
extrusion
of
lipids
from
membranes
or
the
flipping
of
membrane
lipids
across
the
bilayer
to
generate
and
maintain
membrane
lipid
asymmetry
.
Typical
lipid
substrates
include
phospholipids
,
sterols
,
sphingolipids
,
bile
acids
and
related
lipid
conjugates
.
Members
of
the
ABCA
subfamily
of
ABC
transporters
and
other
ABC
proteins
such
as
ABCB
4
,
ABCG
1
and
ABCG
5
/
8
implicated
in
lipid
transport
play
important
roles
in
diverse
biological
processes
such
as
cell
signalling
,
membrane
lipid
asymmetry
,
removal
of
potentially
toxic
compounds
and
metabolites
,
and
apoptosis
.
The
importance
of
these
ABC
lipid
transporters
in
cell
physiology
is
evident
from
the
finding
that
mutations
in
the
genes
encoding
many
of
these
proteins
are
responsible
for
severe
inherited
diseases
.
For
example
,
mutations
in
ABCA
1
cause
Tangier
disease
associated
with
defective
efflux
of
cholesterol
and
phosphatidylcholine
from
the
plasma
membrane
to
the
lipid
acceptor
protein
apoA
1
(
apolipoprotein
AI
)
,
mutations
in
ABCA
3
cause
neonatal
surfactant
deficiency
associated
with
a
loss
in
secretion
of
the
lipid
pulmonary
surfactants
from
lungs
of
newborns
,
mutations
in
ABCA
4
cause
Stargardt
macular
degeneration
,
a
retinal
degenerative
disease
linked
to
the
reduced
clearance
of
retinoid
compounds
from
photoreceptor
cells
,
mutations
in
ABCA
12
cause
harlequin
and
lamellar
ichthyosis
,
skin
diseases
associated
with
defective
lipid
trafficking
in
keratinocytes
,
and
mutations
in
ABCB
4
and
ABCG
5
/
ABCG
8
are
responsible
for
progressive
intrafamilial
hepatic
disease
and
sitosterolaemia
associated
with
defective
phospholipid
and
sterol
transport
respectively
.
This
chapter
highlights
the
involvement
of
various
mammalian
ABC
transporters
in
lipid
transport
in
the
context
of
their
role
in
cell
signalling
,
cellular
homoeostasis
,
apoptosis
and
inherited
disorders
.
Diseases
Validation
Diseases presenting
"potentially toxic compounds"
symptom
lamellar ichthyosis
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