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Abcb10 role in heme biosynthesis in vivo: Abcb10 knockout in mice causes anemia with protoporphyrin IX and iron accumulation.
[erythropoietic protoporphyria]
Abcb
10
,
member
10
of
the
ABC
transporter
family
,
is
reportedly
a
part
of
a
complex
in
the
mitochondrial
inner
membrane
with
mitoferrin-
1
(
Slc
25
a
37
)
and
ferrochelatase
(
Fech
)
and
is
responsible
for
heme
biosynthesis
in
utero
.
However
,
it
is
unclear
whether
loss
of
Abcb
10
causes
pathological
changes
in
adult
mice
.
Here
,
we
show
that
Abcb
10
(
-
/
-
)
mice
lack
heme
biosynthesis
and
erythropoiesis
abilities
and
die
in
midgestation
.
Moreover
,
we
generated
Abcb
10
(
F
/
-
)
;
Mx
1
-
Cre
mice
,
with
Abcb
10
in
hematopoietic
cells
deleted
,
which
showed
accumulation
of
protoporphyrin
IX
and
maturation
arrest
in
reticulocytes
.
Electron
microscopy
images
of
Abcb
10
(
-
/
-
)
hematopoietic
cells
showed
a
marked
increase
of
iron
deposits
at
the
mitochondria
.
These
results
suggest
a
critical
role
for
Abcb
10
in
heme
biosynthesis
and
provide
new
insights
into
the
pathogenesis
of
erythropoietic
protoporphyria
and
sideroblastic
anemia
.
Diseases
Validation
Diseases presenting
"marked increase of iron deposits at the mitochondria"
symptom
erythropoietic protoporphyria
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