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.
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
KLICK
A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer.
None
The disease is caused by variants affecting the gene represented in this entry.
Proteasome-associated autoinflammatory syndrome 2
PRAAS2
An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the POMP/UMP1 family.
Strongly expressed from the basal layer to the granular layer of healthy epidermis, whereas in KLICK patients there is a gradual decrease of expression toward the granular layer.
C13orf12, UMP1, HSPC014, HSPC036, PNAS-110, POMP, Proteasome maturation protein, Proteassemblin, Protein UMP1 homolog, Voltage-gated K channel beta subunit 4.1, hUMP1
Proteins
Immunology & Infectious Disease
15789Da
We found 2 products in 1 category
ab249548
Anti-Proteasome maturation protein antibody [EPR10177] - BSA and Azide free