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New insights into dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p in shuttling of PTS1-receptor Pex5p during peroxisome biogenesis.
[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
such
as
Zellweger
syndrome
.
Two
AAA
peroxins
,
Pex
1
p
and
Pex
6
p
,
are
encoded
by
PEX
1
and
PEX
6
,
the
causal
genes
for
PBDs
of
complementation
groups
1
and
4
,
respectively
.
PEX
26
responsible
for
peroxisome
biogenesis
disorders
of
complementation
group
8
codes
for
C-
tail-anchored
type
-
II
membrane
peroxin
Pex
26
p
,
the
recruiter
of
Pex
1
p
-
Pex
6
p
complexes
to
peroxisomes
.
Pex
1
p
is
targeted
to
peroxisomes
in
a
manner
dependent
on
ATP
hydrolysis
,
while
Pex
6
p
targeting
requires
ATP
but
not
its
hydrolysis
.
Pex
1
p
and
Pex
6
p
are
most
likely
regulated
in
their
peroxisomal
localization
onto
Pex
26
p
via
conformational
changes
by
ATPase
cycle
.
Pex
5
p
is
the
cytosolic
receptor
for
peroxisome
matrix
proteins
with
peroxisome
targeting
signal
type
-
1
and
shuttles
between
the
cytosol
and
peroxisomes
.
AAA
peroxins
are
involved
in
the
export
from
peroxisomes
of
Pex
5
p
.
Pex
5
p
is
ubiquitinated
at
the
conserved
cysteine
11
in
a
form
associated
with
peroxisomes
.
Pex
5
p
with
a
mutation
of
the
cysteine
11
to
alanine
,
termed
Pex
5
p
-
C
11
A
,
abrogates
peroxisomal
import
of
proteins
harboring
peroxisome
targeting
signals
1
and
2
in
wild-
type
cells
.
Pex
5
p
-
C
11
A
is
imported
into
peroxisomes
but
not
exported
,
hence
suggesting
an
essential
role
of
the
cysteine
residue
in
the
export
of
Pex
5
p
.
Diseases
Validation
Diseases presenting
"functional importance"
symptom
epidermolysis bullosa simplex
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
zellweger syndrome
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