PSMD10

Chr X

proteasome 26S subunit, non-ATPase 10

Also known as: dJ889N15.2, p28, p28(GANK)

NCBI Gene: 5716 ENSG00000101843 UniProt: O75832 OMIM: 300880

The protein acts as a chaperone during assembly of the 26S proteasome's regulatory complex and is involved in protein degradation pathways. Mutations cause autosomal recessive neurodevelopmental disorder with seizures, hypotonia, and developmental delay, typically presenting in infancy or early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.78), suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011]

OMIM 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

0.78

LOEUF

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Mechanism