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The role of kindlins in cell biology and relevance to human disease.
[kindler syndrome]
The
kindlins
represent
a
class
of
focal
adhesion
proteins
implicated
in
integrin
activation
.
They
comprise
three
evolutionarily
conserved
members
,
kindlin-
1
,
kindlin-
2
and
kindlin-
3
,
that
share
considerable
sequence
and
structural
similarities
.
The
kindlins
have
a
bipartite
FERM
(
four
point
one
protein
,
ezrin
,
radixin
,
moesin
)
domain
interrupted
by
a
pleckstrin
homology
domain
and
can
bind
directly
to
various
classes
of
integrins
as
well
as
participate
in
inside-out
integrin
activation
.
They
are
encoded
by
three
different
genes
,
namely
KIND
1
(
FERMT
1
;
chromosome
20
p
12
.
3
)
,
KIND
2
(
FERMT
2
;
chromosome
14
q
22
.
1
)
and
KIND
3
(
FERMT
3
;
chromosome
11
q
13
.
1
)
.
Loss
-of-function
mutations
in
KIND
1
and
KIND
3
cause
Kindler
syndrome
and
leukocyte
adhesion
deficiency
-
III
syndrome
,
respectively
,
although
no
human
disease
has
yet
been
associated
with
KIND
2
gene
pathology
.
In
this
review
,
we
focus
on
the
cellular
functions
of
the
kindlins
and
their
clinical
relevance
.
Diseases
Validation
Diseases presenting
"loss-of-function mutations"
symptom
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
esophageal adenocarcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hirschsprung disease
kallmann syndrome
kindler syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
pendred syndrome
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated