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Mutational analysis of oculocutaneous albinism: a compact review.
[oculocutaneous albinism]
Oculocutaneous
albinism
(
OCA
)
is
an
autosomal
recessive
disorder
caused
by
either
complete
lack
of
or
a
reduction
of
melanin
biosynthesis
in
the
melanocytes
.
The
OCA
1
A
is
the
most
severe
type
with
a
complete
lack
of
melanin
production
throughout
life
,
while
the
milder
forms
OCA
1
B
,
OCA
2
,
OCA
3
,
and
OCA
4
show
some
pigment
accumulation
over
time
.
Mutations
in
TYR
,
OCA
2
,
TYRP
1
,
and
SLC
45
A
2
are
mainly
responsible
for
causing
oculocutaneous
albinism
.
Recently
,
two
new
genes
SLC
24
A
5
and
C
10
orf
11
are
identified
that
are
responsible
to
cause
OCA
6
and
OCA
7
,
respectively
.
Also
a
locus
has
been
mapped
to
the
human
chromosome
4
q
24
region
which
is
responsible
for
genetic
cause
of
OCA
5
.
In
this
paper
,
we
summarized
the
clinical
and
molecular
features
of
OCA
genes
.
Further
,
we
reviewed
the
screening
of
pathological
mutations
of
OCA
genes
and
its
molecular
mechanism
of
the
protein
upon
mutation
by
in
silico
approach
.
We
also
reviewed
TYR
(
T
373
K
,
N
371
Y
,
M
370
T
,
and
P
313
R
)
,
OCA
2
(
R
305
W
)
,
TYRP
1
(
R
326
H
and
R
356
Q
)
mutations
and
their
structural
consequences
at
molecular
level
.
It
is
observed
that
the
pathological
genetic
mutations
and
their
structural
and
functional
significance
of
OCA
genes
will
aid
in
development
of
personalized
medicine
for
albinism
patients
.
Diseases
Validation
Diseases presenting
"type with a complete lack of melanin production"
symptom
oculocutaneous albinism
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