SEC61A2

Chr 10

SEC61 translocon subunit alpha 2

NCBI Gene: 55176 ENSG00000065665 UniProt: Q9H9S3

The protein forms part of the SEC61 translocon complex that mediates transport of signal peptide-containing proteins across the endoplasmic reticulum membrane and serves as a ribosome receptor for cotranslational translocation. Mutations cause autosomal recessive tubular aggregate myopathy with features including progressive muscle weakness, muscle pain, and characteristic tubular aggregates on muscle biopsy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.558), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

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)

—

P/LP submissions

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P/LP missense

0.56

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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