TNRC6A

Chr 16

trinucleotide repeat containing adaptor 6A

Also known as: CAGH26, FAME6, GW1, GW182, TNRC6

NCBI Gene: 27327 ENSG00000090905 UniProt: Q8NDV7

The protein functions as a scaffolding component in RNA-mediated gene silencing, recruiting deadenylase complexes and associating with argonaute proteins to enable microRNA and siRNA-mediated translational repression and mRNA cleavage. Mutations cause autosomal dominant neurodevelopmental disorder with seizures, developmental delay, and intellectual disability. This gene is highly intolerant to loss-of-function mutations, indicating that proper dosage is critical for normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpilepsy, familial adult myoclonic, 6

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

0.16

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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