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The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.
[neonatal adrenoleukodystrophy]
Peroxisomes
are
ubiquitous
organelles
with
a
single
membrane
that
contain
over
50
different
enzymes
that
catalyse
various
metabolic
pathways
,
including
beta
-oxidation
and
lipid
synthesis
.
Peroxisome
biogenesis
disorders
(
PBDs
)
,
such
as
Zellweger
syndrome
and
neonatal
adrenoleukodystrophy
,
are
fatal
genetic
diseases
that
are
autosomal
recessive
.
Among
the
PBDs
of
the
12
complementation
groups
(
CGs
)
,
11
associated
PEX
genes
have
been
isolated
.
Accordingly
,
only
the
PBD
pathogenic
gene
for
CG
8
(
also
called
CG-A
)
remains
unidentified
.
Here
we
have
isolated
human
PEX
26
encoding
a
type
II
peroxisomal
membrane
protein
of
relative
molecular
mass
34
,
000
(
M
(
r
)
34
K
)
by
using
ZP
1
67
cells
,
a
Chinese
hamster
ovary
(
CHO
)
mutant
cell
line
.
Expression
of
PEX
26
restores
peroxisomal
protein
import
in
the
fibroblasts
of
an
individual
with
PBD
of
CG
8
.
This
individual
possesses
a
homozygous
,
inactivating
pathogenic
point
mutation
,
Arg
98
Trp
,
in
Pex
26
.
Pex
6
and
Pex
1
of
the
AAA
ATPase
family
co
-immunoprecipitate
with
Pex
26
.
Epitope-tagged
Pex
6
and
Pex
1
are
discernible
as
puncta
in
normal
CHO
-K
1
cells
,
but
not
in
PEX
26
-
defective
cells
.
PEX
26
expression
in
ZP
1
67
cells
re
-establishes
colocalization
of
Pex
6
and
Pex
1
with
Pex
26
,
in
a
Pex
6
-
dependent
manner
.
Thus
,
Pex
26
recruits
Pex
6
-
Pex
1
complexes
to
peroxisomes
.
Diseases
Validation
Diseases presenting
"fatal genetic diseases"
symptom
neonatal adrenoleukodystrophy
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