Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
HSPB2/MKBP, a novel and unique member of the small heat-shock protein family.
[hereditary cerebral hemorrhage with amyloidosis]
Although
proteins
belonging
to
the
sHSP
superfamily
are
diverse
in
sequence
and
size
,
most
share
characteristic
features
,
including
1
)
a
small
molecular
mass
of
12
-
43
kDa
,
2
)
a
conserved
alpha-crystallin
domain
of
80
-
100
residues
,
3
)
formation
of
large
oligomers
,
4
)
a
dynamic
quaternary
structure
,
and
5
)
induction
by
stress
conditions
and
chaperone
activity
in
suppressing
protein
aggregation
.
HSPB
2
/
MKBP
(
myotonic
dystrophy
kinase-bind-protein
)
retains
the
structural
motif
of
the
alpha-crystallin
family
of
HSPs
but
shows
a
unique
nature
compared
with
canonical
family
members
,
characterized
by
gene
allocation
,
specific
binding
partners
in
skeletal
muscle
,
and
unique
stress
responsiveness
.
MKBP
may
be
involved
in
the
pathogenesis
of
myotonic
dystrophy
and
contribute
to
the
neuropathology
in
both
Alzheimer
's
disease
and
hereditary
cerebral
hemorrhage
with
amyloidosis
,
Dutch
type
.
Diseases
Validation
Diseases presenting
"dynamic quaternary structure"
symptom
hereditary cerebral hemorrhage with amyloidosis
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom