TNRC6A

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]

Full Name

trinucleotide repeat containing 6A

Function

Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent repression of translation and for siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As a scaffolding protein, associates with argonaute proteins bound to partially complementary mRNAs, and can simultaneously recruit CCR4-NOT and PAN deadenylase complexes.

Biological Process

Biological Process cellular response to starvation Source:Ensembl
Biological Process miRNA-mediated gene silencing Source:BHF-UCL1 Publication
Biological Process miRNA-mediated gene silencing by inhibition of translation Source:UniProtKB1 Publication
Biological Process positive regulation of nuclear-transcribed mRNA poly(A) tail shortening Source:GO_Central1 Publication

Cellular Location

Cytoplasm, P-body
Mammalian P-bodies are also known as GW bodies (GWBs).

Involvement in disease

Epilepsy, familial adult myoclonic, 6 (FAME6):
A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME6 inheritance is autosomal dominant.