SMG6

Chr 17

SMG6 nonsense mediated mRNA decay factor

Also known as: C17orf31, EST1A, SMG-6, hEST1A, hSMG5/7a

NCBI Gene: 23293 ENSG00000070366 UniProt: Q86US8

The encoded protein functions as a component of the telomerase ribonucleoprotein complex essential for chromosome end replication and maintenance, and provides endonuclease activity in the nonsense-mediated mRNA decay pathway. Mutations cause autosomal recessive intellectual developmental disorder with cardiac arrhythmias, dysmorphism, and skeletal malformations. This gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.30), indicating intolerance to protein-truncating mutations.

ResearchSummary from RefSeq, UniProt

This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]

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

0.30

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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