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Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.
[cohen syndrome]
Loss
-of-function
mutations
in
the
gene
COH
1
,
also
known
as
VPS
13
B
,
lead
to
autosomal
recessive
Cohen
syndrome
.
However
,
the
cellular
distribution
and
function
of
the
encoded
protein
COH
1
(
3997
amino
acids
)
,
which
lacks
functional
homologies
to
other
mammalian
proteins
,
have
remained
enigmatic
.
We
show
here
that
COH
1
is
a
peripheral
Golgi
membrane
protein
that
strongly
co
-localizes
with
the
cis-
Golgi
matrix
protein
GM
130
.
Consistent
with
its
subcellular
localization
,
COH
1
depletion
using
RNAi
causes
fragmentation
of
the
Golgi
ribbon
into
ministacks
.
Disruption
of
Golgi
organization
observed
in
fibroblasts
from
Cohen
syndrome
patients
suggests
that
Golgi
dysfunction
contributes
to
Cohen
syndrome
pathology
.
In
conclusion
,
our
findings
establish
COH
1
as
a
Golgi-associated
matrix
protein
required
for
Golgi
integrity
.
Diseases
Validation
Diseases presenting
"functional homologies"
symptom
cohen syndrome
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