ELAC2
Chr 17ARelaC ribonuclease Z 2
Also known as: COXPD17, ELC2, HPC2
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 9 | 0 | 1 | 0 | 10 |
Likely Pathogenic | 5 | 3 | 0 | 0 | 8 |
VUS | 1 | 80 | 6 | 1 | 88 |
Likely Benign | 0 | 0 | 96 | 91 | 187 |
Benign | 0 | 1 | 4 | 0 | 5 |
Conflicting | — | 2 | |||
| Total | 15 | 84 | 107 | 92 | 300 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ELAC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools