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DGCR8

DGCR8 is a human gene that encodes a double-stranded RNA-binding protein essential for microRNA (miRNA) biogenesis. It functions as the critical cofactor of the microprocessor complex, partnering with the RNase III enzyme DROSHA to convert primary miRNA transcripts into precursor miRNAs that can be further processed into mature miRNAs.

In humans, DGCR8 is located within the 22q11.2 region, a genomic segment frequently affected by microdeletions

Mechanistically, DGCR8 binds to the stem-loop structures of primary miRNA transcripts and serves as the RNA-binding

Clinical significance is primarily tied to haploinsufficiency of DGCR8 within the 22q11.2 deletion syndrome, where altered

and
copy
number
variations.
The
DGCR8
gene
is
widely
expressed,
with
notable
importance
in
neurodevelopment.
Because
the
22q11.2
region
is
commonly
deleted
in
DiGeorge
syndrome
and
related
disorders,
DGCR8
is
among
the
genes
considered
to
contribute
to
the
neurological
and
developmental
features
associated
with
these
conditions,
though
the
phenotypes
arise
from
a
combined
effect
of
multiple
genes
in
the
region.
component
of
the
microprocessor,
helping
recruit
and
position
DROSHA
to
cleave
the
priRNA
and
generate
precursor
miRNAs.
This
processing
step
is
a
key
rate-limiting
stage
in
canonical
miRNA
maturation,
and
loss
or
reduction
of
DGCR8
disrupts
the
production
of
many
mature
miRNAs,
leading
to
widespread
changes
in
gene
regulation.
miRNA
processing
and
downstream
gene
expression
may
contribute
to
neurodevelopmental
and
psychiatric
phenotypes.
Research
continues
to
clarify
the
exact
contribution
of
DGCR8
to
these
conditions
and
its
broader
role
in
human
biology.