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The ABCA subfamily--gene and protein structures, functions and associated hereditary diseases.
[harlequin ichthyosis]
To
date
,
12
members
of
the
human
ABCA
subfamily
are
identified
.
They
share
a
high
degree
of
sequence
conservation
and
have
been
mostly
related
with
lipid
trafficking
in
a
wide
range
of
body
locations
.
Mutations
in
some
of
these
genes
have
been
described
to
cause
severe
hereditary
diseases
related
with
lipid
transport
,
such
as
fatal
surfactant
deficiency
or
harlequin
ichthyosis
.
In
addition
,
most
of
them
are
hypothesized
to
participate
in
the
subcellular
sequestration
of
drugs
,
thereby
being
responsible
for
the
resistance
of
several
carcinoma
cell
lines
against
drug
treatment
.
The
objective
of
this
review
is
to
summarize
the
literature
for
this
subfamily
of
ABC
transporter
proteins
,
excluding
ABCA
1
and
ABCA
4
,
which
will
be
discussed
in
other
chapters
of
this
issue
.
Diseases
Validation
Diseases presenting
"wide range"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
carcinoma of the gallbladder
congenital toxoplasmosis
cowden syndrome
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
fabry disease
gm1 gangliosidosis
harlequin ichthyosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
neonatal adrenoleukodystrophy
oral submucous fibrosis
pendred syndrome
phenylketonuria
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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