Proteasome subunit alpha type-3
The PSMA3 gene encodes a componet of proteasomes. Mutations cause a dysfunctional proteasome which results in autoinflammatory processes.
Akioka H et al. (1995) Isolation and characterization of the HC8 subunit gene of the human proteasome.
Liu Y et. al. (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.
Brehm A et. al. (2015) Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
Update: Aug. 14, 2020