PSMD12 Chromosome 17
Proteasome 26S subunit, non-ATPase 12
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What This Gene Does
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Proteasome
Locus Type
gene with protein product
Location
17q24.2
Ensembl
ENSG00000197170
Associated Conditions (4)
Stankiewicz-Isidor syndrome
Inborn genetic diseases
Intellectual disability
PSMD12-related disorder
Key Variants
RS201685625
Conflicting classifications of pathogenicity
Stankiewicz-Isidor syndrome, Inborn genetic diseases, Stankiewicz-Isidor syndrome
Health Risk
RS1309958938
Likely pathogenic
Health Risk
RS140191153
Likely pathogenic
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
Health Risk
RS2041974262
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2509679289
Likely pathogenic
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
Health Risk
RS2509685660
Likely pathogenic
PSMD12-related disorder, PSMD12-related disorder
Health Risk
RS1114167442
Pathogenic
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
Health Risk
RS1114167443
Pathogenic
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
Health Risk
RS1114167444
Pathogenic
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
Health Risk
RS1403781576
Pathogenic
Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
Health Risk
RS1567954436
Pathogenic
Health Risk
RS1567955779
Pathogenic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201685625 | Health Risk | Conflicting classifications of pathogenicity | Stankiewicz-Isidor syndrome, Inborn genetic diseases, Stankiewicz-Isidor syndrome |
| RS1309958938 | Health Risk | Likely pathogenic | — |
| RS140191153 | Health Risk | Likely pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS2041974262 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2509679289 | Health Risk | Likely pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS2509685660 | Health Risk | Likely pathogenic | PSMD12-related disorder, PSMD12-related disorder |
| RS1114167442 | Health Risk | Pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS1114167443 | Health Risk | Pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS1114167444 | Health Risk | Pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS1403781576 | Health Risk | Pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS1567954436 | Health Risk | Pathogenic | — |
| RS1567955779 | Health Risk | Pathogenic | — |
| RS1598560094 | Health Risk | Pathogenic | — |
| RS1598563750 | Health Risk | Pathogenic | — |
| RS1598574154 | Health Risk | Pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS2041910387 | Health Risk | Pathogenic | — |
| RS2041946364 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2143688328 | Health Risk | Pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS2509684335 | Health Risk | Pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS895130488 | Health Risk | Pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |
| RS2041990527 | Health Risk | Pathogenic/Likely pathogenic | Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome |