Rare Diseases Symptoms Automatic Extraction
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Plectin gene defects lead to various forms of epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Plectin
is
an
important
organizer
of
the
keratin
filament
cytoskeleton
in
basal
keratinocytes
.
It
is
essential
for
anchoring
these
filaments
to
the
extracellular
matrix
via
hemidesmosomal
integrins
.
Loss
of
plectin
or
incorrect
function
of
the
protein
due
to
mutations
in
its
gene
can
lead
to
various
forms
of
the
skin
blistering
disease
,
epidermolysis
bullosa
simplex
.
Severity
and
subtype
of
the
disease
is
dependent
on
the
specific
mutation
and
can
be
associated
with
(
late-onset
)
muscular
dystrophy
or
pyloric
atresia
.
Mouse
models
mimicking
the
human
phenotypes
allow
detailed
study
of
plectin
function
.