Variant: rs1554239543 

    present in Gene: PSMB8;PSMB8-AS1
    present in Chromosome: 6
    Position on Chromosome: 32842766
    Alleles of this Variant: T/G

rs1554239543 in PSMB8;PSMB8-AS1 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 21881205 2011 A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.

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

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

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