DISEASES

Disease-gene associations mined from literature

Literature associating PSMB8 and panniculitis

PSMB8 [ENSP00000364016]

Proteasome (prosome, macropain) 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. 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; Belongs to the peptidase T1B family.

Synonyms:  PSMB8,  PSMB8p,  hPSMB8,  LMP7,  PSMB5i ...

Linkouts:  STRING  Pharos  OMIM