PSMG4

Chr 6

proteasome assembly chaperone 4

Also known as: C6orf86, PAC4, Pba4, bA506K6.2

NCBI Gene: 389362 ENSG00000180822 UniProt: Q5JS54

This protein functions as a chaperone that promotes assembly of the 20S proteasome, a key cellular component responsible for protein degradation. Mutations cause autosomal recessive neurodegeneration with brain iron accumulation, typically presenting in childhood with progressive movement disorders and cognitive decline. The gene shows low constraint to loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in proteasome assembly. Predicted to be located in cytosol. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.81

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429