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Peroxisomal ABC transporters: structure, function and role in disease.
[x-linked adrenoleukodystrophy]
ATP-binding
cassette
(
ABC
)
transporters
belong
to
one
of
the
largest
families
of
membrane
proteins
,
and
are
present
in
almost
all
living
organisms
from
eubacteria
to
mammals
.
They
exist
on
plasma
membranes
and
intracellular
compartments
such
as
the
mitochondria
,
peroxisomes
,
endoplasmic
reticulum
,
Golgi
apparatus
and
lysosomes
,
and
mediate
the
active
transport
of
a
wide
variety
of
substrates
in
a
variety
of
different
cellular
processes
.
These
include
the
transport
of
amino
acids
,
polysaccharides
,
peptides
,
lipids
and
xenobiotics
,
including
drugs
and
toxins
.
Three
ABC
transporters
belonging
to
subfamily
D
have
been
identified
in
mammalian
peroxisomes
.
The
ABC
transporters
are
half
-size
and
assemble
mostly
as
a
homodimer
after
posttranslational
transport
to
peroxisomal
membranes
.
ABCD
1
/
ALDP
and
ABCD
2
/
ALDRP
are
suggested
to
be
involved
in
the
transport
of
very
long
chain
acyl-
CoA
with
differences
in
substrate
specificity
,
and
ABCD
3
/
PMP
70
is
involved
in
the
transport
of
long
and
branched
chain
acyl-
CoA
.
ABCD
1
is
known
to
be
responsible
for
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
,
an
inborn
error
of
peroxisomal
β-oxidation
of
very
long
chain
fatty
acids
.
Here
,
we
summarize
recent
advances
and
important
points
in
our
advancing
understanding
of
how
these
ABC
transporters
target
and
assemble
to
peroxisomal
membranes
and
perform
their
functions
in
physiological
and
pathological
processes
,
including
the
neurodegenerative
disease
,
X-
ALD
.
Diseases
Validation
Diseases presenting
"branched chain acyl-coa"
symptom
x-linked adrenoleukodystrophy
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