PSMB7

This gene encodes a beta subunit of the 20S proteasome core complex that degrades intracellular proteins through both ubiquitin-dependent and ubiquitin-independent pathways, displaying trypsin-like proteolytic activity essential for protein homeostasis. The gene is highly constrained against loss-of-function variation (pLI 0.89, LOEUF 0.41), but specific disease associations have not yet been established in the provided clinical data. Mutations in proteasome subunit genes can potentially affect multiple organ systems given the fundamental role of protein degradation in cellular function.