proteasome 20S subunit beta 8
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Autoinflammatory disorders
BIALLELIC, autosomal or pseudoautosomalChildhood interstitial lung disease
BIALLELIC, autosomal or pseudoautosomalCOVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalPeriodic fever syndromes
BIALLELIC, autosomal or pseudoautosomalPrimary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalSevere insulin resistance and lipodystrophy syndromes
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal+5 more panels — install the extension to see the full list inline on any page.
Proteasome disability syndrome
proteosome-associated autoinflammatory syndrome
plasma cell myeloma
mantle cell lymphoma
neoplasm
amyloidosis
AL amyloidosis
acute lymphoblastic leukemia
non-Hodgkin lymphoma
autoinflammatory syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Proteasome subunit beta type-8
The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Involved in the generation of spliced peptides resulting from the ligation of two separate proteasomal cleavage products that are not contiguous in the parental protein (PubMed:27049119). Acts as a major component of interferon gamma-induced sensitivity. Plays a key role in apoptosis via the degradation of the apoptotic inhibitor MCL1. May be involved in the inflammatory response pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results in immunoproteasome deficiency. Required for the differentiation of preadipocytes into adipocytes
Curated MONDO disease pages that list PSMB8 among their top associated genes.
PSMB8 · P28062
Mean pLDDT
83.8/ 100
Confident
276 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
