Gene Symbol | POMP |
Entrez Gene ID | 51371 |
Full Name | proteasome maturation protein |
Synonyms | C13orf12,HSPC014,PNAS-110,UMP1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Aug 2010]. |
Disorder MIM: | |
Disorder Html: | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3) |