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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
"defects of pex3"
symptom
zellweger syndrome
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