ADAD1

Chr 4

adenosine deaminase domain containing 1

Also known as: Tenr

NCBI Gene: 132612 ENSG00000164113 UniProt: Q96M93

The ADAD1 protein functions as a double-stranded RNA adenosine deaminase that binds RNA and is required for male fertility and normal spermatogenesis. Mutations cause male infertility with abnormal sperm development, following an autosomal recessive inheritance pattern. This gene shows moderate constraint against loss-of-function mutations (LOEUF 0.51), consistent with its essential role in male reproductive development.

ResearchSummary from RefSeq, UniProt

Predicted to enable double-stranded RNA adenosine deaminase activity; double-stranded RNA binding activity; and tRNA-specific adenosine deaminase activity. Predicted to be involved in RNA processing and adenosine to inosine editing. Predicted to act upstream of or within spermatid development. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

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

0.51

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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