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Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p involved in shuttling of the PTS1 receptor Pex5p in peroxisome biogenesis.
[zellweger syndrome]
The
peroxisome
is
a
single
-membrane-bound
organelle
found
in
eukaryotes
.
The
functional
importance
of
peroxisomes
in
humans
is
highlighted
by
peroxisome-
deficient
PBDs
(
peroxisome
biogenesis
disorders
)
,
such
as
Zellweger
syndrome
.
Two
AAA
(
ATPase
associated
with
various
cellular
activities
)
peroxins
,
Pex
1
p
and
Pex
6
p
,
are
encoded
by
PEX
1
and
PEX
6
,
the
causal
genes
for
CG
(
complementation
group
)
1
and
CG
4
PBDs
respectively
.
PEX
26
,
which
is
responsible
for
CG
8
PBDs
,
codes
for
Pex
26
p
,
the
recruiter
of
Pex
1
p
-
Pex
6
p
complexes
to
peroxisomes
.
We
recently
assigned
the
binding
regions
between
human
Pex
1
p
and
Pex
6
p
and
elucidated
the
pivotal
roles
that
the
AAA
cassettes
,
D
1
and
D
2
domains
,
play
in
Pex
1
p
-
Pex
6
p
interaction
and
in
peroxisome
biogenesis
.
ATP
binding
to
both
AAA
cassettes
of
Pex
1
p
and
Pex
6
p
was
a
prerequisite
for
the
Pex
1
p
-
Pex
6
p
interaction
and
peroxisomal
localization
,
but
ATP
hydrolysis
by
the
D
2
domains
was
not
required
.
Pex
1
p
exists
in
two
distinct
oligomeric
forms
,
a
homo-oligomer
in
the
cytosol
and
a
hetero-oligomer
on
peroxisome
membranes
,
with
these
possibly
having
distinct
functions
in
peroxisome
biogenesis
.
AAA
peroxins
are
involved
in
the
export
from
peroxisomes
of
Pex
5
p
,
the
PTS
1
(
peroxisome-targeting
signal
type
1
)
receptor
.
Diseases
Validation
Diseases presenting
"functional importance"
symptom
epidermolysis bullosa simplex
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
zellweger syndrome
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