Home > Gene Browser > PSMA4

PSMA4

Synonyms
HC9, HsT17706, PSC9
External resources
Summary
This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
7,978
Likely benign
198
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PSMA4 gene.

Phenotype class
Patients in 3billion (%)

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