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Official Full Name
proteasome maturation protein
Background
The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5 UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.
Synonyms
POMP; proteasome maturation protein; C13orf12, chromosome 13 open reading frame 12; HSPC014; proteassemblin; UMP1; 2510048O06Rik; C13orf12; Chromosome 13 open reading frame 12; HSPC 014; HSPC036 protein; hUMP 1; hUMP1; PNAS 110; PNAS110; Protein UMP1 homolog; UMP 1; Voltage gated K channel beta subunit 4.1; voltage-gated K channel beta subunit 4.1; voltage-gated potassium channel beta subunit 4.1; PNAS-110; UMP1, HSPC014, C13orf12, PNAS-110; fa13f09; zgc:92775; wu:fa13f09