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The SLC3 and SLC7 families of amino acid transporters.
[cystinuria]
Amino
acids
are
necessary
for
all
living
cells
and
organisms
.
Specialized
transporters
mediate
the
transfer
of
amino
acids
across
plasma
membranes
.
Malfunction
of
these
proteins
can
affect
whole-body
homoeostasis
giving
raise
to
diverse
human
diseases
.
Here
,
we
review
the
main
features
of
the
SLC
3
and
SLC
7
families
of
amino
acid
transporters
.
The
SLC
7
family
is
divided
into
two
subfamilies
,
the
cationic
amino
acid
transporters
(
CATs
)
,
and
the
L-
type
amino
acid
transporters
(
LATs
)
.
The
latter
are
the
light
or
catalytic
subunits
of
the
heteromeric
amino
acid
transporters
(
HATs
)
,
which
are
associated
by
a
disulfide
bridge
with
the
heavy
subunits
4
F
2
hc
or
rBAT
.
These
two
subunits
are
glycoproteins
and
form
the
SLC
3
family
.
Most
CAT
subfamily
members
were
functionally
characterized
and
shown
to
function
as
facilitated
diffusers
mediating
the
entry
and
efflux
of
cationic
amino
acids
.
In
certain
cells
,
CATs
play
an
important
role
in
the
delivery
of
L-
arginine
for
the
synthesis
of
nitric
oxide
.
HATs
are
mostly
exchangers
with
a
broad
spectrum
of
substrates
and
are
crucial
in
renal
and
intestinal
re
-absorption
and
cell
redox
balance
.
Furthermore
,
the
role
of
the
HAT
4
F
2
hc
/
LAT
1
in
tumor
growth
and
the
application
of
LAT
1
inhibitors
and
PET
tracers
for
reduction
of
tumor
progression
and
imaging
of
tumors
are
discussed
.
Finally
,
we
describe
the
link
between
specific
mutations
in
HATs
and
the
primary
inherited
aminoacidurias
,
cystinuria
and
lysinuric
protein
intolerance
.
Diseases
Validation
Diseases presenting
"mostly exchangers with a broad spectrum"
symptom
cystinuria
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