Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Analysis of the human VPS13 gene family.
[cohen syndrome]
The
gene
mutated
in
chorea-
acanthocytosis
(
CHAC
;
approved
gene
symbol
VPS
13
A
)
encodes
chorein
,
a
protein
similar
to
yeast
Vps
13
p
.
We
detected
several
similar
putative
human
proteins
by
BLAST
analysis
of
chorein
.
We
characterized
the
structure
of
three
new
genes
encoding
these
CHAC-similar
proteins
,
located
on
chromosomes
1
p
36
,
8
q
22
,
and
15
q
21
.
The
most
similar
gene
in
yeast
to
all
four
human
genes
is
Vps
13
,
and
therefore
the
human
genes
were
named
VPS
13
A
(
CHAC
,
9
q
21
)
,
VPS
13
B
(
8
q
22
)
,
VPS
13
C
(
15
q
21
)
,
and
VPS
13
D
(
1
p
36
)
.
VPS
13
B
has
recently
been
reported
as
COH
1
,
altered
in
Cohen
syndrome
.
For
each
gene
,
we
describe
several
alternative
splicing
variants
;
at
least
two
transcripts
per
gene
are
major
forms
.
The
expression
pattern
of
these
genes
is
ubiquitous
,
with
some
tissue-
specific
differences
between
several
transcript
variants
.
Protein
sequence
comparisons
suggest
that
intramolecular
duplications
have
played
an
important
role
in
the
evolution
of
this
gene
family
.
Diseases
Validation
Diseases presenting
"several similar putative human proteins"
symptom
cohen syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom