Entrez gene ID | | 51371 |
Official gene symbol | | POMP |
Full name | | proteasome maturation protein |
Aliases | | ,C13orf12,HSPC014,PNAS-110,UMP1, |
Gene summary | | 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. |
Location | | Chromosome: 13 Locus: 13q12.3 |
Gene position | | 29233241 - 29253094 Map Viewer |
Gene orientation | | plus |
Gene size | | 19854 bp |
Gene sequence |
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OMIM ID | | 613386 |