PSMA6 Chromosome 14
Proteasome 20S subunit alpha 6
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What This Gene Does
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure 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. 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 member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
Proteasome
Locus Type
gene with protein product
Location
14q13.2
Ensembl
ENSG00000100902
Associated Conditions (3)
Myocardial infarction
susceptibility to
PSMA6-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1048990 | Health Risk | Benign; risk factor | Myocardial infarction, susceptibility to, PSMA6-related disorder |