PSMC3 Chromosome 11

Proteasome 26S subunit, ATPase 3
5 variants 5 Health Risk

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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 one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"AAA ATPases|Proteasome"
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000165916
Associated Conditions (9)
Inborn genetic diseases
Neurodevelopmental delay
Severe sensorineural hearing impairment
Developmental cataract
Deafness
cataract
impaired intellectual development
and polyneuropathy
12 conditions
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS2496055707 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2496056054 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2496050991 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1177898071 Health Risk Pathogenic Neurodevelopmental delay, Severe sensorineural hearing impairment, Developmental cataract
RS1363348500 Health Risk Pathogenic 12 conditions, 12 conditions
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