PSMD6

Chr 3

proteasome 26S subunit, non-ATPase 6

Also known as: Rpn7, S10, SGA-113M, p42A, p44S10

NCBI Gene: 9861 ENSG00000163636 UniProt: Q15008

The encoded protein is a component of the 26S proteasome, a multiprotein complex that degrades ubiquitinated proteins in an ATP-dependent manner to maintain cellular protein homeostasis and participate in cell cycle progression, apoptosis, and DNA damage repair. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy or early childhood. This gene is highly constrained against loss-of-function mutations in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]

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

0.23

LOEUF· LoF intol.

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Mechanism

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