Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"wide variety"
symptom
alexander disease
allergic bronchopulmonary aspergillosis
cadasil
erythropoietic protoporphyria
esophageal carcinoma
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
junctional epidermolysis bullosa
lamellar ichthyosis
lymphangioleiomyomatosis
oral submucous fibrosis
pleomorphic liposarcoma
proteus syndrome
severe combined immunodeficiency
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom