PSMB9 Chromosome 6
Proteasome 20S subunit beta 9
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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. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Proteasome
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000240065
Associated Conditions (3)
Proteasome-associated autoinflammatory syndrome 3
Proteasome-associated autoinflammatory syndrome 6
proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID)
Key Variants
RS367733308
Conflicting classifications of pathogenicity
Health Risk
RS369359789
Conflicting classifications of pathogenicity
Proteasome-associated autoinflammatory syndrome 3, Proteasome-associated autoinflammatory syndrome 3
Health Risk
RS2127399518
Pathogenic
Proteasome-associated autoinflammatory syndrome 6, proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID), Proteasome-associated autoinflammatory syndrome 6
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS367733308 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369359789 | Health Risk | Conflicting classifications of pathogenicity | Proteasome-associated autoinflammatory syndrome 3, Proteasome-associated autoinflammatory syndrome 3 |
| RS2127399518 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 6, proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID), Proteasome-associated autoinflammatory syndrome 6 |