Disease-gene associations mined from literature

Literature associating PSMD2 and autosomal dominant familial periodic fever

PSMD2 [ENSP00000310129]

Proteasome (prosome, macropain) 26S subunit, non-ATPase, 2; 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; Belongs to the proteasome subunit S2 family.

Synonyms:  PSMD2,  PSMD2p,  hPSMD2,  C9JPC0,  DKFZP564A2282 ...

Linkouts:  STRING  Pharos  UniProt  OMIM