POMP Chromosome 13
Proteasome maturation protein
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What This Gene Does
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]
Associated Conditions (2)
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Proteasome-associated autoinflammatory syndrome 2
Key Variants
RS374402169
Conflicting classifications of pathogenicity
Health Risk
RS1555257069
Likely pathogenic
Health Risk
RS112368783
Pathogenic
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Health Risk
RS1555257073
Pathogenic
Proteasome-associated autoinflammatory syndrome 2, Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, Proteasome-associated autoinflammatory syndrome 2
Health Risk
RS1555257075
Pathogenic
Proteasome-associated autoinflammatory syndrome 2, Proteasome-associated autoinflammatory syndrome 2
Health Risk
RS1555257076
Pathogenic
Proteasome-associated autoinflammatory syndrome 2, Proteasome-associated autoinflammatory syndrome 2
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS374402169 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555257069 | Health Risk | Likely pathogenic | — |
| RS112368783 | Health Risk | Pathogenic | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome |
| RS1555257073 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 2, Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, Proteasome-associated autoinflammatory syndrome 2 |
| RS1555257075 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 2, Proteasome-associated autoinflammatory syndrome 2 |
| RS1555257076 | Health Risk | Pathogenic | Proteasome-associated autoinflammatory syndrome 2, Proteasome-associated autoinflammatory syndrome 2 |