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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
"kind3 cause kindler syndrome and leukocyte adhesion deficiency-iii syndrome"
symptom
kindler syndrome
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