POMP
Description
The POMP (proteasome maturation protein) is a protein-coding gene located on chromosome 13.
POMP, the human gene encoding Proteasome maturation protein, is responsible for the production of a short-lived maturation factor required for 20S proteasome subunit biogenesis. A single nucleotide deletion in this gene leads to an autosomal recessive skin disorder, keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome.
POMP is a molecular chaperone crucial for the assembly of standard proteasomes and immunoproteasomes. Its role involves facilitating the association of the 20S preproteasome with the endoplasmic reticulum. It undergoes degradation upon completion of proteasome maturation.
POMP is also known as C13orf12, HSPC014, PNAS-110, PRAAS2, UMP1.
Associated Diseases
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
- Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
- Proteasome-Associated autoinflammatory syndrome 2
