PSMB4

Chr 1AR

proteasome 20S subunit beta 4

Also known as: HN3, HsN3, PRAAS3, PROS-26, PROS26

NCBI Gene: 5692 ENSG00000159377 UniProt: P28070 OMIM: 602177

PSMB4 encodes a non-catalytic beta subunit of the 20S proteasome core complex, which degrades intracellular proteins to maintain cellular protein homeostasis and generate MHC class I antigenic peptides. Mutations cause proteasome-associated autoinflammatory syndrome 3, an autosomal recessive disorder involving immune system dysfunction. The gene shows relatively low constraint to loss-of-function variants, consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…