EXD3

Chr 9

exonuclease 3'-5' domain containing 3

Also known as: Nbr, mut-7

NCBI Gene: 54932 ENSG00000187609 UniProt: Q8N9H8 OMIM: 620859

The protein functions as a 3'-5' exoribonuclease that trims the 3' ends of microRNAs bound to AGO1, playing a critical role in microRNA processing. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. This gene is extremely intolerant to loss-of-function mutations, indicating that proper dosage is essential for normal development.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable 3'-5' exonuclease activity; metal ion binding activity; and nucleic acid binding activity. Predicted to be involved in nucleobase-containing compound metabolic process. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.00

Clinical Summary— EXD3

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Explore recent and relevant literature in Research Assistant →