ELAC1

Chr 18

elaC ribonuclease Z 1

ENSG00000141642 UniProt: Q9H777 OMIM: 608079

The ELAC1 protein is a zinc phosphodiesterase that processes tRNA 3'-ends and removes cyclic phosphates from damaged tRNAs as part of ribosome-associated quality control pathways. The gene is highly constrained against loss-of-function variants (pLI 0.88, LOEUF 0.42), suggesting mutations would likely cause severe disease, though specific associated disorders have not yet been established. Based on the constraint metrics, pathogenic variants would likely follow an autosomal dominant inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Zinc phosphodiesterase, which displays some tRNA 3'-processing endonuclease activity (PubMed:12711671, PubMed:32075755). Specifically involved in tRNA repair: acts downstream of the ribosome-associated quality control (RQC) pathway by removing a 2',3'-cyclic phosphate from tRNAs following cleavage by ANKZF1 (PubMed:32075755). tRNAs are then processed by TRNT1 (PubMed:32075755)

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.42

LOEUF

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Mechanism

Some data sources returned errors (1)

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