PSMB8 Chromosome 6
Proteasome 20S subunit beta 8
Upload your DNA to see your personal genotypes for variants in PSMB8.
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 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Proteasome
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000204264
Associated Conditions (8)
Autoinflammatory syndrome
Proteosome-associated autoinflammatory syndrome
Inborn genetic diseases
Proteasome-associated autoinflammatory syndrome 1
See cases
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
DIGENIC
PSMB8-related disorder
Key Variants
RS1007524117
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS1020393626
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome, Autoinflammatory syndrome
Health Risk
RS1304795371
Conflicting classifications of pathogenicity
Proteosome-associated autoinflammatory syndrome, Inborn genetic diseases, Proteosome-associated autoinflammatory syndrome
Health Risk
RS141273371
Conflicting classifications of pathogenicity
Proteasome-associated autoinflammatory syndrome 1, Inborn genetic diseases, Proteosome-associated autoinflammatory syndrome
Health Risk
RS200016893
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome, Autoinflammatory syndrome
Health Risk
RS368551668
Conflicting classifications of pathogenicity
Proteasome-associated autoinflammatory syndrome 1, Inborn genetic diseases, Proteosome-associated autoinflammatory syndrome
Health Risk
RS371747700
Conflicting classifications of pathogenicity
Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteasome-associated autoinflammatory syndrome 1
Health Risk
RS371969268
Conflicting classifications of pathogenicity
Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
Health Risk
RS376750959
Conflicting classifications of pathogenicity
Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteasome-associated autoinflammatory syndrome 1
Health Risk
RS529946385
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome, Autoinflammatory syndrome
Health Risk
RS547653681
Conflicting classifications of pathogenicity
Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
Health Risk
RS55853041
Conflicting classifications of pathogenicity
Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1007524117 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome, Inborn genetic diseases |
| RS1020393626 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome, Autoinflammatory syndrome |
| RS1304795371 | Health Risk | Conflicting classifications of pathogenicity | Proteosome-associated autoinflammatory syndrome, Inborn genetic diseases, Proteosome-associated autoinflammatory syndrome |
| RS141273371 | Health Risk | Conflicting classifications of pathogenicity | Proteasome-associated autoinflammatory syndrome 1, Inborn genetic diseases, Proteosome-associated autoinflammatory syndrome |
| RS200016893 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome, Autoinflammatory syndrome |
| RS368551668 | Health Risk | Conflicting classifications of pathogenicity | Proteasome-associated autoinflammatory syndrome 1, Inborn genetic diseases, Proteosome-associated autoinflammatory syndrome |
| RS371747700 | Health Risk | Conflicting classifications of pathogenicity | Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteasome-associated autoinflammatory syndrome 1 |
| RS371969268 | Health Risk | Conflicting classifications of pathogenicity | Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS376750959 | Health Risk | Conflicting classifications of pathogenicity | Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteasome-associated autoinflammatory syndrome 1 |
| RS529946385 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome, Autoinflammatory syndrome |
| RS547653681 | Health Risk | Conflicting classifications of pathogenicity | Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS55853041 | Health Risk | Conflicting classifications of pathogenicity | Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS757858465 | Health Risk | Conflicting classifications of pathogenicity | Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS767292865 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome, Autoinflammatory syndrome |
| RS775701157 | Health Risk | Conflicting classifications of pathogenicity | See cases, Proteosome-associated autoinflammatory syndrome, Proteasome-associated autoinflammatory syndrome 1 |
| RS2483095040 | Health Risk | Likely pathogenic | Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS763314828 | Health Risk | Likely pathogenic | Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1 |
| RS1312431639 | Health Risk | Pathogenic | Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS1359687163 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1 |
| RS1554239543 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1 |
| RS1582609458 | Health Risk | Pathogenic | Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS1769913209 | Health Risk | Pathogenic | Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS2483087076 | Health Risk | Pathogenic | Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS2483096056 | Health Risk | Pathogenic | Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS374929612 | Health Risk | Pathogenic | Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome |
| RS387906680 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1 |
| RS748082671 | Health Risk | Pathogenic | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC, Proteasome-associated autoinflammatory syndrome 1 |
| RS895985294 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1 |
| RS146254972 | Health Risk | Pathogenic/Likely pathogenic | Proteasome-associated autoinflammatory syndrome 1, Proteosome-associated autoinflammatory syndrome, Proteasome-associated autoinflammatory syndrome 1 |
| RS2127377117 | Health Risk | Pathogenic/Likely pathogenic | Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome, Autoinflammatory syndrome |