Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
.
