PSMB4 Chromosome 1
Proteasome 20S subunit beta 4
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What This Gene Does
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Proteasome
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000159377
Associated Conditions (2)
Proteasome-associated autoinflammatory syndrome 3
Proteasome-associated autoinflammatory syndrome 1
Key Variants
RS145190029
Conflicting classifications of pathogenicity
Health Risk
RS2529155350
Conflicting classifications of pathogenicity
Health Risk
RS372581320
Conflicting classifications of pathogenicity
Health Risk
RS780283759
Conflicting classifications of pathogenicity
Health Risk
RS1553209362
Pathogenic
Proteasome-associated autoinflammatory syndrome 3, Proteasome-associated autoinflammatory syndrome 3
Health Risk
RS1553209373
Pathogenic
Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145190029 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2529155350 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372581320 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780283759 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1553209362 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 3, Proteasome-associated autoinflammatory syndrome 3 |
| RS1553209373 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1 |