Gene: PSMB8

Alternate names for this Gene: ALDD|D6S216|D6S216E|JMP|LMP7|NKJO|PRAAS1|PSMB5i|RING10

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: proteasome 20S subunit beta 8

Type of Gene: protein-coding

rs9357155 in PSMB8 gene and Kidney Diseases PMID 21399633 2011 Genome-wide association study identifies susceptibility loci for IgA nephropathy.

rs387906680 in PSMB8 gene and PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 PMID 26567544 2016 CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.

PMID 21953331 2012 Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

PMID 26524591 2015 Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

PMID 21881205 2011 A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.

PMID 21852578 2011 Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

PMID 21129723 2010 PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

rs9357155 in PSMB8 gene and Rheumatoid Arthritis PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.