Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Controversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cells.
[pendred syndrome]
Pendred
syndrome
is
an
autosomal
recessive
disorder
defined
by
sensorineural
deafness
,
goiter
and
a
partial
organification
defect
of
iodide
.
It
is
caused
by
biallelic
mutations
in
the
multifunctional
anion
transporter
pendrin
/
SLC
26
A
4
.
In
human
thyroid
tissue
,
pendrin
is
localized
at
the
apical
membrane
of
thyroid
follicular
cells
.
The
clinical
phenotype
of
patients
with
Pendred
syndrome
and
the
fact
that
pendrin
can
mediate
iodide
efflux
in
transfected
cells
suggest
that
this
anion
exchanger
may
be
involved
in
mediating
iodide
efflux
into
the
follicular
lumen
,
a
key
step
in
thyroid
hormone
biosynthesis
.
This
concept
has
,
however
,
been
questioned
.
This
review
discusses
supporting
evidence
as
well
as
arguments
questioning
a
role
of
pendrin
in
mediating
iodide
efflux
in
thyrocytes
.