PSMG2 Chromosome 18
Proteasome assembly chaperone 2
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What This Gene Does
Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Located in nucleus. Part of protein folding chaperone complex. Implicated in proteosome-associated autoinflammatory syndrome 4. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (1)
Proteasome-associated autoinflammatory syndrome 4
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116940091 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2040458488 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 4, Proteasome-associated autoinflammatory syndrome 4 |