Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.
[lamellar ichthyosis]
The
cytochrome
P
450
(
CYP
)
4
family
of
enzymes
contains
several
recently
identified
membersthat
are
referred
to
as
“
orphan
P
450
s
”
because
their
endogenous
substrates
are
unknown
.
Human
CYP
4
V
2
and
CYP
4
F
2
2
are
two
such
orphan
P
450
s
that
are
strongly
linked
to
ocular
andskin
disease
,
respectively
.
Genetic
analyses
have
identified
a
wide
spectrum
of
mutations
in
the
CYP
4
V
2
gene
from
patients
suffering
from
Bietti
’
s
crystalline
corneoretinal
dystrophy
,
and
mutations
in
theCYP
4
F
2
2
gene
have
been
linked
to
lamellar
ichthyosis
.
The
strong
gene
–disease
associations
provideunique
opportunities
for
elucidating
the
substrate
specificity
of
these
orphan
P
450
s
and
unraveling
thebiochemical
pathways
that
may
be
impacted
in
patients
with
CYP
4
V
2
and
CYP
4
F
2
2
functional
deficits
.
