Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly: in metabolic functions and biogenesis of peroxisomes in health and disease.
[zellweger syndrome]
Peroxisome
is
a
single
-membrane
organelle
in
eukaryotes
.
The
functional
importance
of
peroxisomes
in
humans
is
highlighted
by
peroxisome-
deficient
peroxisome
biogenesis
disorders
(
PBDs
)
such
as
Zellweger
syndrome
(
ZS
)
.
Gene
defects
of
peroxins
required
for
both
membrane
assembly
and
matrix
protein
import
are
identified
:
ten
mammalian
pathogenic
peroxins
for
ten
complementation
groups
of
PBDs
,
are
required
for
matrix
protein
import
;
three
,
Pex
3
p
,
Pex
16
p
and
Pex
19
p
,
are
shown
to
be
essential
for
peroxisome
membrane
assembly
and
responsible
for
the
most
severe
ZS
in
PBDs
of
three
complementation
groups
12
,
9
,
and
14
,
respectively
.
Patients
with
severe
ZS
with
defects
of
PEX
3
,
PEX
16
,
and
PEX
19
tend
to
carry
severe
mutation
such
as
nonsense
mutations
,
frameshifts
and
deletions
.
With
respect
to
the
function
of
these
three
peroxins
in
membrane
biogenesis
,
two
distinct
pathways
have
been
proposed
for
the
import
of
peroxisomal
membrane
proteins
in
mammalian
cells
:
a
Pex
19
p
-
and
Pex
3
p
-dependent
class
I
pathway
and
a
Pex
19
p
-
and
Pex
16
p
-dependent
class
II
pathway
.
In
class
II
pathway
,
Pex
19
p
also
forms
a
soluble
complex
with
newly
synthesized
Pex
3
p
as
the
chaperone
for
Pex
3
p
in
the
cytosol
and
directly
translocates
it
to
peroxisomes
.
Pex
16
p
functions
as
the
peroxisomal
membrane
receptor
that
is
specific
to
the
Pex
3
p
-
Pex
19
p
complexes
.
A
model
for
the
import
of
peroxisomal
membrane
proteins
is
suggested
,
providing
new
insights
into
the
molecular
mechanisms
underlying
the
biogenesis
of
peroxisomes
and
its
regulation
involving
Pex
3
p
,
Pex
19
p
,
and
Pex
16
p
.
Another
model
suggests
that
in
Saccharomyces
cerevisiae
peroxisomes
likely
emerge
from
the
endoplasmic
reticulum
.
Diseases
Validation
Diseases presenting
"functional importance"
symptom
epidermolysis bullosa simplex
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom