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Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes.
[kindler syndrome]
A
novel
family
of
focal
adhesion
proteins
,
the
kindlins
,
is
involved
in
attachment
of
the
actin
cytoskeleton
to
the
plasma
membrane
and
in
integrin-mediated
cellular
processes
.
Deficiency
of
kindlin-
1
,
as
a
result
of
loss
-of-function
mutations
in
the
KIND
1
gene
,
causes
Kindler
syndrome
,
an
autosomal
recessive
genodermatosis
characterized
by
skin
blistering
,
progressive
skin
atrophy
,
photosensitivity
and
,
occasionally
,
carcinogenesis
.
Here
we
characterized
authentic
and
recombinantly
expressed
kindlin-
1
and
show
that
it
is
localized
in
basal
epidermal
keratinocytes
in
a
polar
fashion
,
close
to
the
cell
surface
facing
the
basement
membrane
,
in
the
areas
between
the
hemidesmosomes
.
We
identified
two
forms
of
kindlin-
1
in
keratinocytes
,
with
apparent
molecular
masses
of
78
and
74
kDa
,
corresponding
to
phosphorylated
and
desphosphorylated
forms
of
the
protein
.
In
kindlin-
1
-
deficient
skin
,
basal
keratinocytes
show
multiple
abnormalities
:
cell
polarity
is
lost
,
proliferation
is
strongly
reduced
,
and
several
cells
undergo
apoptosis
.
In
vitro
,
deficiency
of
kindlin-
1
in
keratinocytes
leads
to
strongly
reduced
cell
proliferation
,
decreased
adhesion
,
undirected
motility
,
and
intense
protrusion
activity
of
the
plasma
membrane
.
Taken
together
,
these
results
show
that
kindlin-
1
plays
a
role
in
keratinocyte
adhesion
,
polarization
,
proliferation
,
and
migration
.
It
is
involved
in
organization
and
anchorage
of
the
actin
cytoskeleton
to
integrin-associated
signaling
platforms
.
Diseases
Validation
Diseases presenting
"deficiency of kindlin-1 in keratinocytes"
symptom
kindler syndrome
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