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OTX2

OTX2, or orthodenticle homeobox 2, is a conserved transcription factor belonging to the homeobox gene family. The human OTX2 gene encodes this protein, which contains a homeodomain that binds DNA and regulates gene expression. OTX2 is essential for early head and brain patterning and for proper development of sensory structures, including the eye and retina. During embryonic development, OTX2 is expressed in the forebrain and midbrain primordia, as well as in tissues that give rise to the retina and optic structures. In the retina, OTX2 participates in specifying photoreceptor and bipolar cell fates and works in concert with other transcription factors, such as CRX, to activate photoreceptor gene programs.

Functional studies in mice and other models show that OTX2 controls regionalization of the neural plate, influences

Clinical significance: Germline mutations in OTX2 can cause ocular malformations, including anophthalmia and microphthalmia, often with

Research and therapeutic context: OTX2 remains a focus in developmental biology and cancer research, providing insight

optic
cup
formation,
and
is
necessary
for
the
generation
of
several
neuronal
types
in
the
ventral
forebrain.
Beyond
development,
OTX2
continues
to
influence
retinal
cell
maintenance
and
may
have
roles
in
adult
neural
circuits.
pituitary
abnormalities
and
hormonal
deficiencies.
Somatic
alterations,
including
amplification
and
overexpression
of
OTX2,
have
been
reported
in
subsets
of
CNS
tumors
such
as
medulloblastoma
and
other
pineal/brain
tumors,
and
are
associated
with
tumor
biology.
Because
of
its
restricted
expression
pattern
in
tumors,
OTX2
is
used
as
a
diagnostic
biomarker
in
pathology
to
help
classify
certain
brain
tumors.
into
neural
differentiation
and
tumorigenesis.