Aliases for POMP Gene
External Ids for POMP Gene
Previous HGNC Symbols for POMP Gene
Previous GeneCards Identifiers for POMP Gene
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]
GeneCards Summary for POMP Gene
POMP (Proteasome Maturation Protein) is a Protein Coding gene. Diseases associated with POMP include Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma and Proteasome-Associated Autoinflammatory Syndrome 2. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation.
UniProtKB/Swiss-Prot Summary for POMP Gene
Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum.