PSMD12
Function
Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.
Involvement in disease
Stankiewicz-Isidor syndrome
STISS
A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild dysmorphism, ophthalmologic anomalies, feeding difficulties, deafness, and variable congenital malformations of the cardiac and/or urogenital systems.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the proteasome subunit p55 family.
Alternative names
26S proteasome non-ATPase regulatory subunit 12, 26S proteasome regulatory subunit RPN5, 26S proteasome regulatory subunit p55, PSMD12