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PSMA5

Synonyms
PSC5, ZETA
External resources
Summary
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 alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene.

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
1
Likely pathogenic
18
VUS
2,986
Likely benign
169
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on PSMA5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
26.3%
Abnormality of head or neck
21.1%
Abnormality of the eye
21.1%
Abnormality of the genitourinary system
15.8%
Abnormality of the immune system
15.8%
Abnormality of the musculoskeletal system
15.8%
Abnormality of the respiratory system
10.5%
Abnormality of limbs
5.3%
Abnormality of prenatal development or birth
5.3%
Abnormality of the integument
5.3%
Growth abnormality
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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