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Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders.
[neonatal adrenoleukodystrophy]
Two
peroxisomal
targeting
signals
,
PTS
1
and
PTS
2
,
are
involved
in
the
import
of
proteins
into
the
peroxisome
matrix
.
Human
patients
with
fatal
generalized
peroxisomal
deficiency
disorders
fall
into
at
least
nine
genetic
complementation
groups
.
Cells
from
many
of
these
patients
are
deficient
in
the
import
of
PTS
1
-
containing
proteins
,
but
the
causes
of
the
protein-import
defect
in
these
patients
are
unknown
.
We
have
cloned
and
sequenced
the
human
cDNA
homologue
(
PTS
1
R
)
of
the
Pichia
pastoris
PAS
8
gene
,
the
PTS
1
receptor
(
McCollum
,
D
.
,
E
.
Monosov
,
and
S
.
Subramani
.
1993
.
J
.
Cell
Biol
.
121
:
761
-
774
)
.
The
PTS
1
R
mRNA
is
expressed
in
all
human
tissues
examined
.
Antibodies
to
the
human
PTS
1
R
recognize
this
protein
in
human
,
monkey
,
rat
,
and
hamster
cells
.
The
protein
is
localized
mainly
in
the
cytosol
but
is
also
found
to
be
associated
with
peroxisomes
.
Part
of
the
peroxisomal
PTS
1
R
protein
is
tightly
bound
to
the
peroxisomal
membrane
.
Antibodies
to
PTS
1
R
inhibit
peroxisomal
protein-import
of
PTS
1
-
containing
proteins
in
a
permeabilized
CHO
cell
system
.
In
vitro-translated
PTS
1
R
protein
specifically
binds
a
serine-lysine-leucine-peptide
.
A
PAS
8
-
PTS
1
R
fusion
protein
complements
the
P
.
pastoris
pas
8
mutant
.
The
PTS
1
R
cDNA
also
complements
the
PTS
1
protein-import
defect
in
skin
fibroblasts
from
patients--belonging
to
complementation
group
two
--diagnosed
as
having
neonatal
adrenoleukodystrophy
or
Zellweger
syndrome
.
The
PTS
1
R
gene
has
been
localized
to
a
chromosomal
location
where
no
other
peroxisomal
disorder
genes
are
known
to
map
.
Our
findings
represent
the
only
case
in
which
the
molecular
basis
of
the
protein-import
deficiency
in
human
peroxisomal
disorders
is
understood
.
Diseases
Validation
Diseases presenting
"fusion protein"
symptom
achondroplasia
dedifferentiated liposarcoma
liposarcoma
neonatal adrenoleukodystrophy
severe combined immunodeficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
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