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
.
Diseases
Validation
Diseases presenting
"ichthyosis"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
hirschsprung disease
junctional epidermolysis bullosa
kallmann syndrome
lamellar ichthyosis
This symptom has already been validated