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A random Abstract
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Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.
[pendred syndrome]
Pendred
syndrome
(
PS
)
is
the
most
frequent
form
of
genetically
related
syndromic
hearing
loss
,
and
is
associated
with
mutations
of
pendrin
,
encoded
by
the
SLC
26
A
4
gene
.
This
protein
localizes
to
the
cellular
membrane
and
permits
the
exchange
of
anions
between
the
cytosol
and
extracellular
space
.
In
the
inner
ear
,
pendrin
conditions
the
endolymph
,
allowing
for
the
proper
function
of
sensory
cells
.
Understanding
the
relationship
between
the
genotype
and
phenotype
of
pendrin
mutations
would
aid
clinicians
to
better
serve
PS
patients-however
,
little
is
known
.
Here
,
we
summarize
the
available
data
concerning
SLC
26
A
4
mutations
and
how
they
relate
to
transporter
function
.
The
main
findings
suggest
that
all
the
truncation
mutations
tested
annihilate
pendrin
function
,
and
that
the
addition
or
omission
of
proline
,
or
the
addition
or
omission
of
charged
amino
acids
in
the
sequence
of
SLC
26
A
4
result
in
a
substantial
to
dramatic
reduction
in
pendrin
function
.
