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ELAC2

ELAC2 is a human gene that encodes an endoribonuclease involved in transfer RNA (tRNA) maturation. It belongs to the RNase Z family of enzymes and functions as a tRNA 3' processing endoribonuclease, trimming the 3' trailer from precursor tRNAs to produce mature termini necessary for proper tRNA function.

In humans, ELAC2 activity is associated with mitochondrial RNA processing. The encoded protein is targeted to

Genetically, ELAC2 is expressed across multiple tissues, with mitochondria-rich organs often showing higher activity. The protein

Clinical significance regarding ELAC2 has primarily emerged from studies examining its variants for associations with disease

mitochondria,
where
it
participates
in
the
processing
of
mitochondrial
tRNA
transcripts,
contributing
to
the
production
of
components
required
for
mitochondrial
protein
synthesis.
It
is
believed
to
act
on
a
subset
of
mitochondrial
tRNAs
and
to
work
in
concert
with
other
RNA
processing
factors.
contains
motifs
typical
of
the
metallo-beta-lactamase
superfamily
and
relies
on
divalent
metal
ions
for
catalysis,
consistent
with
its
enzymatic
role
in
RNA
processing.
risk.
Notably,
certain
single-nucleotide
polymorphisms
have
been
linked
to
prostate
cancer
risk
in
some
populations,
but
findings
have
been
inconsistent
and
no
definitive
causal
relationship
has
been
established.
Overall,
while
ELAC2
plays
an
established
role
in
tRNA
maturation,
its
contribution
to
disease
susceptibility
remains
a
topic
of
ongoing
research.