Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): physiological and pathophysiological relevance.
[pendred syndrome]
The
solute
carrier
26
(
SLC
26
)
proteins
are
transmembrane
proteins
located
at
the
plasma
membrane
of
the
cells
and
transporting
a
variety
of
monovalent
and
divalent
anions
,
including
chloride
,
bicarbonate
,
sulfate
and
oxalate
.
In
humans
,
11
members
have
been
identified
(
SLC
26
A
1
to
SLC
26
A
11
)
and
although
part
of
them
display
a
very
restricted
tissue
expression
pattern
,
altogether
they
are
widely
expressed
in
the
epithelial
cells
of
the
body
where
they
contribute
to
the
composition
and
the
pH
regulation
of
the
secreted
fluids
.
Importantly
,
mutations
in
SLC
26
A
2
,
A
3
,
A
4
,
and
A
5
have
been
associated
with
distinct
human
genetic
recessive
disorders
(
i
.
e
.
diastrophic
dysplasia
,
congenital
chloride
diarrhea
,
Pendred
syndrome
and
deafness
,
respectively
)
,
demonstrating
their
essential
and
non-
redundant
functions
in
many
tissues
.
During
the
last
decade
,
physical
and
functional
interactions
of
SLC
26
members
with
the
cystic
fibrosis
transmembrane
conductance
regulator
(
CFTR
)
have
been
highly
documented
,
leading
to
the
model
of
a
crosstalk
based
on
the
binding
of
the
SLC
26
STAS
domain
to
the
CFTR
regulatory
domain
.
In
this
review
,
we
will
focus
on
the
functional
interaction
of
SLC
26
A
8
and
SLC
26
A
9
with
the
CFTR
channel
.
In
particular
we
will
highlight
the
newly
published
studies
indicating
that
mutations
in
SLC
26
A
8
and
SLC
26
A
9
proteins
are
associated
with
a
deregulation
of
the
CFTR
anion
transport
activity
in
the
pathophysiological
context
of
the
sperm
and
the
pulmonary
cells
.
These
studies
confirm
the
physiological
relevance
of
SLC
26
and
CFTR
cross-regulation
,
opening
new
gates
for
the
treatment
of
cystic
fibrosis
.
Diseases
Validation
Diseases presenting
"redundant functions in many tissues"
symptom
pendred syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom