DISEASES

Disease-gene associations mined from literature

Literature associating PSMD4 and Pelizaeus-Merzbacher disease

PSMD4 [ENSP00000357879]

Proteasome (prosome, macropain) 26S subunit, non-ATPase, 4; 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. PSMD4 acts as an ubiquitin receptor subunit through ubiquitin-interacting motifs and selects ubiquitin-conjugates for destruction. Displays a preferred selectivity for longer polyubiquitin chains.

Synonyms:  PSMD4,  PSMD4p,  hPSMD4,  A6PVX3,  P55036 ...

Linkouts:  STRING  Pharos  UniProt  OMIM