PSMB1 Chromosome 6
Proteasome 20S subunit beta 1
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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 proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Proteasome
Locus Type
gene with protein product
Location
6q27
Ensembl
ENSG00000008018
Associated Conditions (3)
Neurodevelopmental disorder with microcephaly
hypotonia
and absent language
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2533951873 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, hypotonia, and absent language |