ELAC2

Chr 17ADAR

elaC ribonuclease Z 2

Also known as: COXPD17, ELC2, HPC2

NCBI Gene: 60528 ENSG00000006744 UniProt: Q9BQ52 OMIM: 605367

The protein functions as a tRNA 3' processing endoribonuclease that catalyzes the removal of 3' trailers from precursor tRNAs in mitochondria. Biallelic mutations cause combined oxidative phosphorylation deficiency 17 through autosomal recessive inheritance. The pathogenic mechanism involves impaired mitochondrial tRNA processing leading to defective oxidative phosphorylation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Prostate cancer, hereditary, 2}MIM #614731

Combined oxidative phosphorylation deficiency 17MIM #615440

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.05

LOEUF

LOF

Mechanism· G2P