PSMG2
Function
Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the heteroheptameric alpha ring and prevents alpha ring dimerization.
Involvement in disease
Proteasome-associated autoinflammatory syndrome 4
PRAAS4
An autosomal recessive, autoinflammatory disorder characterized by panniculitis and erythematous skin lesions apparent in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, autoimmune hemolytic anemia, fever, generalized lipodystrophy, myositis, joint contractures, and mild motor and speech delay.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Degraded by the proteasome upon completion of 20S proteasome maturation.
Sequence Similarities
Belongs to the PSMG2 family.
Tissue Specificity
Widely expressed with highest levels in lung, brain and colon. Moderately expressed in muscle, stomach, spleen and heart. Weakly expressed in small intestine, pancreas and liver. Highly expressed in hepatocellular carcinomas with low levels in surrounding liver tissue.
Cellular localization
- Nucleus
Alternative names
HCCA3, PAC2, TNFSF5IP1, PSMG2, Proteasome assembly chaperone 2, PAC-2, Hepatocellular carcinoma-susceptibility protein 3, Tumor necrosis factor superfamily member 5-induced protein 1